SLC2A1 (P11166) variants and mutations
SLC2A1 (also known as P11166) is a human protein-coding gene encoding a solute carrier family 2, facilitated glucose transporter member 1 protein. It provides basal glucose uptake in many tissues and is the principal route for glucose entry across the blood-brain barrier. Haploinsufficiency causes GLUT1 deficiency syndrome with epilepsy, developmental impairment, and movement disorders from inadequate brain glucose delivery. This analysis covers 865 SLC2A1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes encephalopathy due to GLUT1 deficiency, Paroxysmal exertion-induced dyskinesia, and dystonia 9. Example SLC2A1 variants include M1L, M1R, and M1T.
Variant analysis overview
- Gene: SLC2A1
- Protein: P11166
- UniProt accession: P11166
- Organism: Homo sapiens
- Variants analyzed: 865
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 692 unspecified-consequence records; 8 stop lost; 87 synonymous variants; 4 stop-gained variants; 58 missense variants; 2 in-frame deletions; 6 frameshift variants; 1 stop retained variant; 4 splice-region variants; 3 substitution
- Prediction scores: 663 variants have prediction scores (77% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: encephalopathy due to GLUT1 deficiency, Paroxysmal exertion-induced dyskinesia, dystonia 9, hereditary cryohydrocytosis with reduced stomatin, idiopathic generalized epilepsy, childhood onset GLUT1 deficiency syndrome 2, Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity, Seizure, Intellectual disability, GLUT1 deficiency syndrome, Global developmental delay, glut1 deficiency syndrome 1, autosomal recessive.
Protein structure and variant hotspots
- Protein features: 12 transmembrane segments; 8 binding sites; 6 post-translational modification sites.
- Structural context: 433 variants have structural context.
- PTM context: 11 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable SLC2A1 variants
Examples include M1L, M1R, M1T, M1V, E2D, P3S, S4G, S4N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs2124478725, ClinGen CA339965904, ClinVar RCV003516871, ClinGen CA339965905, MetaLR 0.49, MetaSVM -0.24, Pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive
- M1R (p.Met1Arg), rs1553157935, ClinGen CA339965901, ClinVar RCV003479918, MetaLR 0.49, MetaSVM -0.20, Pathogenic, Encephalopathy due to GLUT1 deficiency
- M1T (p.Met1Thr), rs1553157935, ClinGen CA339965902, ClinVar RCV000578988, ClinVar RCV001249305, MetaLR 0.49, MetaSVM -0.20, Pathogenic/Likely pathogenic, SLC2A1-related disorder; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc
- M1V (p.Met1Val), rs2124478725, ClinGen CA339965906, ClinVar RCV002246719, ClinVar RCV002290852, MetaLR 0.49, MetaSVM -0.24, Pathogenic, Dystonia 9; Encephalopathy due to GLUT1 deficiency
- E2D (p.Glu2Asp), gnomAD rs1271529267, REVEL 0.30, CADD 15.10, Likely benign
- P3S (p.Pro3Ser), gnomAD rs1232724729, REVEL 0.21, CADD 17.90
- S4G (p.Ser4Gly), rs1643808062, ClinGen CA339965882, ClinVar RCV003632401, REVEL 0.16, CADD 22.00, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- S4N (p.Ser4Asn), rs1335592731, ClinGen CA339965880, ClinVar RCV002667524, ClinVar RCV006262514, REVEL 0.17, CADD 19.90, Uncertain significance, not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- S4R (p.Ser4Arg), TOPMed rs1295646319, gnomAD rs1295646319, REVEL 0.17, CADD 21.10, Likely benign
- S5C (p.Ser5Cys), rs780680200, ClinGen CA339965875, ClinVar RCV001726750, ExAC rs780680200, REVEL 0.33, CADD 23.90, Uncertain significance, not provided
- S5G (p.Ser5Gly), ExAC rs780680200, TOPMed rs780680200, gnomAD rs780680200, REVEL 0.27, CADD 21.90, Uncertain significance
- S5N (p.Ser5Asn), gnomAD rs1326368803, REVEL 0.24, CADD 19.90
- K6* (p.Lys6Ter), rs2525084740, ClinGen CA339965866, ClinVar RCV002468683, Pathogenic
- K7N (p.Lys7Asn), rs2525035105, ClinGen CA339964917, ClinVar RCV003014743, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- T9M (p.Thr9Met), rs1570601100, ClinGen CA339964905, ClinVar RCV000812775, ClinVar RCV001731941, REVEL 0.77, CADD 27.80, Conflicting interpretations, Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; Inborn gene
- G10V (p.Gly10Val), Ensembl rs2124461924
- R11C (p.Arg11Cys), rs1333609390, ClinGen CA10590134, ClinVar RCV000707535, ClinVar RCV003141711, REVEL 0.26, CADD 23.70, Uncertain significance, Hereditary cryohydrocytosis with reduced stomatin; not provided; GLUT1 deficienc
- R11H (p.Arg11His), rs150921182, ClinGen CA803638, ClinVar RCV001926297, ClinVar RCV005642666, REVEL 0.15, CADD 21.60, Uncertain significance, not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- L12H (p.Leu12His), rs2525035044, ClinGen CA339964891, ClinVar RCV003055058, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- M13L (p.Met13Leu), rs774411009, ClinGen CA339964888, ClinVar RCV003491497, ClinVar RCV003517510, REVEL 0.27, CADD 18.50, Uncertain significance, not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- M13V (p.Met13Val), ExAC rs774411009, gnomAD rs774411009, REVEL 0.36, CADD 14.40
- A15D (p.Ala15Asp), gnomAD rs1288030829
- A15S (p.Ala15Ser), rs1393626431, ClinGen CA339964873, ClinVar RCV003136760, TOPMed rs1393626431, REVEL 0.23, CADD 20.10, Uncertain significance, not provided
- V16L (p.Val16Leu), rs1553156841, ClinGen CA339964867, ClinVar RCV000648083, Ensembl rs1553156841, AlphaMissense 0.61, MetaLR 0.82, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- V16M (p.Val16Met), rs1553156841, ClinGen CA339964869, ClinVar RCV001823337, ClinVar RCV005095287, REVEL 0.71, AlphaMissense 0.61, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- G17* (p.Gly17Ter), rs1345986424, ClinGen CA339964861, ClinVar RCV000502046, gnomAD rs1345986424, AlphaMissense 0.97, MetaLR 0.59, Pathogenic
- G17A (p.Gly17Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G17E (p.Gly17Glu), rs1553156840, ClinGen CA339964860, ClinVar RCV000531748, gnomAD rs1553156840, REVEL 0.57, CADD 22.90, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G17R (p.Gly17Arg), rs1345986424, ClinGen CA339964863, ClinVar RCV000733447, ClinVar RCV001855780, AlphaMissense 0.97, MetaLR 0.59, Pathogenic/Likely pathogenic, Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r
- G18* (p.Gly18Ter), gnomAD rs1322852314
- G18R (p.Gly18Arg), rs1322852314, ClinGen CA339964857, ClinVar RCV003518034, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G18V (p.Gly18Val), NCI-TCGA Cosmic COSV1009, Variant assessed as somatic; moderate impact.
- A19T (p.Ala19Thr), rs2525034951, ClinGen CA339964851, ClinVar RCV003517884, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- A19V (p.Ala19Val), rs1557651202, ClinGen CA339964846, ClinVar RCV000694163, Ensembl rs1557651202, AlphaMissense 0.62, MetaLR 0.58, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- Q25K (p.Gln25Lys), rs1165759782, ClinGen CA339964816, ClinVar RCV000820791, ClinVar RCV001507439, REVEL 0.90, CADD 26.90, Uncertain significance, Inborn genetic diseases; not specified; Hereditary cryohydrocytosis with reduced
- F26S (p.Phe26Ser), rs2525034903, ClinGen CA339964804, ClinVar RCV002294853, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G27D (p.Gly27Asp), rs794727283, ClinGen CA019329, ClinVar RCV000175828, ClinVar RCV004794372, AlphaMissense 1.00, MetaLR 0.89, Conflicting interpretations, Inborn genetic diseases; not provided; Encephalopathy due to GLUT1 deficiency
- G27S (p.Gly27Ser), Ensembl rs796053273
- T30A (p.Thr30Ala), gnomAD rs1186274140, REVEL 0.71, CADD 23.10
- T30I (p.Thr30Ile), rs1643615962, ClinGen CA339964776, ClinVar RCV003631666, REVEL 0.45, CADD 22.80, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- T30S (p.Thr30Ser), TOPMed rs1643615962
- G31E (p.Gly31Glu), rs1557651185, ClinGen CA339964771, ClinVar RCV000705848, Ensembl rs1557651185, AlphaMissense 1.00, MetaLR 0.78, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- I33T (p.Ile33Thr), rs2525034837, ClinGen CA339964758, ClinVar RCV003234260, Uncertain significance, not provided
- N34D (p.Asn34Asp), rs587784390, ClinGen CA018969, ClinVar RCV000147518, ClinVar RCV005089715, AlphaMissense 0.98, MetaLR 0.67, Pathogenic/Likely pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy due to GLUT1 de
- N34I (p.Asn34Ile), rs80359812, ClinGen CA018991, ClinVar RCV000030921, UniProt VAR 054755, AlphaMissense 0.97, MetaLR 0.72, Pathogenic, Childhood onset GLUT1 deficiency syndrome 2
- N34K (p.Asn34Lys), rs1570601007, ClinGen CA339964750, ClinVar RCV000824820, Ensembl rs1570601007, AlphaMissense 1.00, MetaLR 0.68, Likely pathogenic, Encephalopathy due to GLUT1 deficiency
- N34S (p.Asn34Ser), rs80359812, ClinGen CA339964752, ClinVar RCV000819798, ClinVar RCV000995645, AlphaMissense 0.97, MetaLR 0.72, Pathogenic, not provided; Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to
- N34Y (p.Asn34Tyr), UniProt VAR 065206, Pathogenic, in GLUT1DS1
- A35G (p.Ala35Gly), rs773791632, ClinGen CA339964746, ClinVar RCV003002257, AlphaMissense 0.53, MetaLR 0.54, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- A35S (p.Ala35Ser), rs796053245, ClinGen CA318417, ClinVar RCV000189347, ClinVar RCV002517016, REVEL 0.59, CADD 25.70, Uncertain significance, Hereditary cryohydrocytosis with reduced stomatin; not specified; Epilepsy, idio
- A35V (p.Ala35Val), rs773791632, ClinGen CA803635, ClinVar RCV001964992, ExAC rs773791632, REVEL 0.85, AlphaMissense 0.53, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- P36L (p.Pro36Leu), rs1570600997, ClinGen CA339964740, ClinVar RCV000850198, ClinVar RCV005001108, AlphaMissense 0.97, MetaLR 0.68, Conflicting interpretations, Intellectual disability; not provided
- P36R (p.Pro36Arg), NCI-TCGA Cosmic COSV6528, Likely pathogenic, Seizure
- P36T (p.Pro36Thr), rs2525034790, ClinGen CA339964745, ClinVar RCV002293805, Uncertain significance, not provided
- Q37E (p.Gln37Glu), ExAC rs770013950, gnomAD rs770013950, REVEL 0.42, CADD 21.70
- Q37H (p.Gln37His), rs2525034775, ClinGen CA339964733, ClinVar RCV003227208, Uncertain significance, not provided
- Q37K (p.Gln37Lys), ExAC rs770013950, gnomAD rs770013950, REVEL 0.78, CADD 26.40
- K38T (p.Lys38Thr), gnomAD rs1467764389, REVEL 0.38, CADD 24.10
- V39G (p.Val39Gly), Ensembl rs1570593965, Uncertain significance, not provided
- E41K (p.Glu41Lys), rs769722007, ClinGen CA803608, ClinVar RCV001908714, ClinVar RCV003446942, REVEL 0.33, CADD 22.50, Uncertain significance, Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie
- E42* (p.Glu42Ter), rs2124450939, ClinGen CA339962638, ClinVar RCV001949288, Ensembl rs2124450939, Pathogenic
- E42A (p.Glu42Ala), rs748082803, ClinGen CA318419, ClinVar RCV000189348, ClinVar RCV000819050, REVEL 0.16, CADD 21.70, Conflicting interpretations, not specified; not provided; Dystonia 9
- Y44C (p.Tyr44Cys), NCI-TCGA Cosmic COSV6528, Variant assessed as somatic; moderate impact.
- Y44D (p.Tyr44Asp), rs375881934, ClinGen CA339962585, ClinVar RCV001933657, ESP rs375881934, AlphaMissense 0.96, MetaLR 0.69, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- Y44H (p.Tyr44His), rs375881934, ClinGen CA803607, ClinVar RCV001300895, ESP rs375881934, REVEL 0.58, AlphaMissense 0.96, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- N45D (p.Asn45Asp), rs1249135503, ClinGen CA339962559, ClinVar RCV001228286, gnomAD rs1249135503, REVEL 0.59, CADD 23.40, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- Q46* (p.Gln46Ter), rs754791604, ClinGen CA339962533, ClinVar RCV001647242, ClinVar RCV003517326, AlphaMissense 0.05, MetaLR 0.07, Pathogenic
- Q46E (p.Gln46Glu), rs754791604, ClinGen CA803606, ClinVar RCV000705361, ClinVar RCV001759415, REVEL 0.10, AlphaMissense 0.05, Uncertain significance, not provided; Hereditary cryohydrocytosis with reduced stomatin; GLUT1 deficienc
- Q46H (p.Gln46His), rs149998596, ClinGen CA318421, ClinVar RCV000865433, ClinVar RCV001096621, REVEL 0.08, CADD 17.40, Benign, Hereditary cryohydrocytosis with reduced stomatin; Epilepsy, idiopathic generali
- T47A (p.Thr47Ala), rs1643485738, ClinGen CA339962513, ClinVar RCV001226075, Ensembl rs1643485738, AlphaMissense 0.42, MetaLR 0.39, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- T47I (p.Thr47Ile), 1000Genomes rs571371116, ExAC rs571371116, gnomAD rs571371116, REVEL 0.76, CADD 24.00
- W48* (p.Trp48Ter), rs2524999660, ClinGen CA339962484, ClinVar RCV002648146, Pathogenic
- W48G (p.Trp48Gly), rs2124450904, ClinGen CA339962489, ClinVar RCV001968173, Ensembl rs2124450904, AlphaMissense 0.73, MetaLR 0.38, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- V49A (p.Val49Ala), rs1231935211, ClinGen CA339962452, ClinVar RCV001752405, ClinVar RCV003631220, AlphaMissense 0.12, MetaLR 0.18, Uncertain significance, not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- V49F (p.Val49Phe), rs878854904, ClinGen CA10581792, ClinVar RCV000228194, gnomAD rs878854904, AlphaMissense 0.07, MetaLR 0.18, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- V49I (p.Val49Ile), rs878854904, NCI-TCGA Cosmic COSV1009, gnomAD rs878854904, REVEL 0.14, AlphaMissense 0.07, Uncertain significance
- R51C (p.Arg51Cys), NCI-TCGA Cosmic COSV6528, TOPMed rs1643485589, Uncertain significance, in EIG12
- R51H (p.Arg51His), rs201815571, ClinGen CA803603, NCI-TCGA Cosmic COSV6528, ClinVar RCV001266485, REVEL 0.69, AlphaMissense 0.34, Uncertain significance, not provided; Inborn genetic diseases; Hereditary cryohydrocytosis with reduced
- R51P (p.Arg51Pro), rs201815571, ClinGen CA339962418, ClinVar RCV000533560, ClinVar RCV005410906, AlphaMissense 0.34, MetaLR 0.53, Conflicting interpretations, Childhood onset GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1, autoso
- Y52N (p.Tyr52Asn), rs1643485509, ClinGen CA339962412, ClinVar RCV001310847, Ensembl rs1643485509, AlphaMissense 0.15, MetaLR 0.29, Uncertain significance, not provided
- G53R (p.Gly53Arg), gnomAD rs1235624366, REVEL 0.26, CADD 13.70
- G53V (p.Gly53Val), rs796053246, ClinGen CA318423, ClinVar RCV000189350, ClinVar RCV001038415, REVEL 0.33, CADD 12.20, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 12; Hereditary cryohydrocyt
- E54D (p.Glu54Asp), rs2124450883, ClinGen CA339962341, ClinVar RCV001769069, Ensembl rs2124450883, AlphaMissense 0.12, MetaLR 0.35, Uncertain significance, not provided
- S55R (p.Ser55Arg), rs2524999574, ClinGen CA2580611169, ClinVar RCV002852534, Pathogenic
- S55T (p.Ser55Thr), rs794727508, ClinGen CA019088, ClinVar RCV000177260, Ensembl rs794727508, AlphaMissense 0.07, MetaLR 0.24, Uncertain significance, not provided
- I56V (p.Ile56Val), TOPMed rs1643485326
- P58S (p.Pro58Ser), rs765479065, ClinGen CA803602, ClinVar RCV000648090, ClinVar RCV001096619, REVEL 0.10, CADD 14.00, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia 9; GLUT1 defic
- T60A (p.Thr60Ala), NCI-TCGA Cosmic COSV6528, Uncertain significance, in EIG12
- T60M (p.Thr60Met), rs142986731, ClinGen CA803599, ClinVar RCV000476048, ClinVar RCV000593978, REVEL 0.54, CADD 22.60, Conflicting interpretations, not specified; not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- T60R (p.Thr60Arg), rs142986731, ClinGen CA339962199, ClinVar RCV001091413, ESP rs142986731, REVEL 0.54, CADD 23.40, Uncertain significance, not provided
- L61F (p.Leu61Phe), rs2524999504, ClinGen CA339962185, ClinVar RCV003048589, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- T62I (p.Thr62Ile), rs1643485004, ClinGen CA339962155, ClinVar RCV001316126, Ensembl rs1643485004, AlphaMissense 0.32, MetaLR 0.49, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- T63M (p.Thr63Met), rs200828053, ClinGen CA803597, ClinVar RCV000476696, ClinVar RCV000763915, REVEL 0.17, CADD 20.70, Conflicting interpretations, Inborn genetic diseases; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy
- W65* (p.Trp65Ter), rs2524999434, ClinGen CA339962096, ClinVar RCV003337741, Likely pathogenic
- W65C (p.Trp65Cys), TOPMed rs1474108894
- S66* (p.Ser66Ter), rs2524999421, ClinGen CA2580062860, ClinVar RCV002284144, Pathogenic, in GLUT1DS1
- S66F (p.Ser66Phe), rs80359813, UniProt VAR 013283, Ensembl rs80359813, AlphaMissense 0.95, MetaLR 0.75, Pathogenic, in GLUT1DS1
- S66Y (p.Ser66Tyr), rs80359813, ClinGen CA339962070, ClinVar RCV002867392, AlphaMissense 0.95, MetaLR 0.75, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- S68L (p.Ser68Leu), rs1570593865, ClinGen CA339962024, NCI-TCGA Cosmic COSV6528, ClinVar RCV000799246, AlphaMissense 0.92, MetaLR 0.35, Conflicting interpretations, not provided; GLUT1 deficiency syndrome 1, autosomal recessive
- V69M (p.Val69Met), rs1643484773, ClinGen CA339962021, ClinVar RCV001046931, Ensembl rs1643484773, AlphaMissense 0.93, MetaLR 0.73, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- A70T (p.Ala70Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A70V (p.Ala70Val), rs2124450819, ClinGen CA339961984, ClinVar RCV002255241, ClinVar RCV005629968, AlphaMissense 0.94, MetaLR 0.71, Likely pathogenic, Encephalopathy due to GLUT1 deficiency; not provided
- I71M (p.Ile71Met), NCI-TCGA Cosmic COSV6528, Variant assessed as somatic; moderate impact.
- F72L (p.Phe72Leu), rs2124450806, ClinGen CA339961922, ClinVar RCV002852915, Ensembl rs2124450806, AlphaMissense 0.99, MetaLR 0.46, Pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive
- S73F (p.Ser73Phe), rs1643484697, ClinGen CA339961903, NCI-TCGA Cosmic COSV6528, ClinVar RCV001270785, AlphaMissense 0.98, MetaLR 0.64, Uncertain significance, Childhood onset GLUT1 deficiency syndrome 2
- V74I (p.Val74Ile), Ensembl rs1643484672
- G76V (p.Gly76Val), rs2124450794, ClinGen CA339961845, ClinVar RCV001956965, Ensembl rs2124450794, AlphaMissense 0.99, MetaLR 0.75, Likely pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive
- M77I (p.Met77Ile), TOPMed rs1643484491
- M77T (p.Met77Thr), rs1187210267, UniProt VAR 076228, gnomAD rs1187210267, REVEL 0.85, CADD 24.00, Pathogenic, in EIG12
- M77V (p.Met77Val), rs776583130, ClinGen CA205940, ClinVar RCV000192838, ClinVar RCV003488448, REVEL 0.51, CADD 23.50, Conflicting interpretations, GLUT1 deficiency syndrome 1, autosomal recessive; not specified; not provided
- I78T (p.Ile78Thr), rs2124450777, ClinGen CA339961798, ClinVar RCV001933717, Ensembl rs2124450777, AlphaMissense 0.12, MetaLR 0.53, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- I78V (p.Ile78Val), rs2124450778, ClinGen CA339961805, ClinVar RCV001767382, Ensembl rs2124450778, AlphaMissense 0.07, MetaLR 0.19, Uncertain significance, not provided
- G79V (p.Gly79Val), rs1643484465, ClinGen CA339961785, ClinVar RCV001204666, Ensembl rs1643484465, AlphaMissense 0.99, MetaLR 0.87, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G84S (p.Gly84Ser), rs768621727, ClinGen CA803591, ClinVar RCV002287274, ClinVar RCV003097719, REVEL 0.91, CADD 26.50, Uncertain significance, Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 d
- L85R (p.Leu85Arg), ExAC rs746796254, gnomAD rs746796254, REVEL 0.81, CADD 27.20
- V87A (p.Val87Ala), rs2524998986, ClinGen CA339961609, ClinVar RCV003518796, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- V87I (p.Val87Ile), rs1643484242, ClinGen CA339961617, ClinVar RCV001218614, ClinVar RCV004783924, AlphaMissense 0.22, MetaLR 0.43, Conflicting interpretations, GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic diseases; not p
- N88S (p.Asn88Ser), rs2524998983, ClinGen CA339961597, ClinVar RCV003441505, Uncertain significance, not provided
- R89C (p.Arg89Cys), rs961569873, ClinGen CA339961583, NCI-TCGA Cosmic COSV6528, ClinVar RCV003230084, REVEL 0.88, CADD 32.00, Uncertain significance, not provided
- R89G (p.Arg89Gly), Ensembl rs961569873
- R89H (p.Arg89His), rs370031715, ClinGen CA803589, ClinVar RCV001965282, ClinVar RCV003446957, REVEL 0.79, CADD 23.30, Uncertain significance, Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12; SLC2A1-rela
- R89L (p.Arg89Leu), NCI-TCGA Cosmic COSV1009, Variant assessed as somatic; moderate impact.
- G91D (p.Gly91Asp), rs80359814, ClinGen CA019112, ClinVar RCV000017490, UniProt VAR 013182, AlphaMissense 0.99, MetaLR 0.90, Pathogenic, Encephalopathy due to GLUT1 deficiency
- R92P (p.Arg92Pro), rs779073410, ClinGen CA339961537, ClinVar RCV001349830, ExAC rs779073410, AlphaMissense 0.89, MetaLR 0.87, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- R92Q (p.Arg92Gln), rs779073410, ClinGen CA803588, ClinVar RCV003038116, ClinVar RCV003410036, REVEL 0.92, AlphaMissense 0.89, Conflicting interpretations, Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Epilepsy, idiopat
- R92W (p.Arg92Trp), rs202060209, ClinGen CA019118, ClinVar RCV000017499, ClinVar RCV000426262, AlphaMissense 0.92, MetaLR 0.86, Pathogenic/Likely pathogenic, Developmental disorder; Encephalopathy due to GLUT1 deficiency; Childhood onset
- R93Q (p.Arg93Gln), rs80359815, ClinGen CA21252168, ClinVar RCV000761655, ClinVar RCV001387742, REVEL 0.70, CADD 25.50, Conflicting interpretations, not specified; GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- R93W (p.Arg93Trp), rs267607061, ClinGen CA019133, ClinVar RCV000030922, ClinVar RCV000442654, REVEL 0.74, CADD 29.70, Pathogenic, SLC2A1-related disorder; GLUT1 deficiency syndrome; Inborn genetic diseases
- N94S (p.Asn94Ser), rs1553156175, ClinGen CA339961448, ClinVar RCV000531950, Ensembl rs1553156175, AlphaMissense 0.15, MetaLR 0.45, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- S95I (p.Ser95Ile), rs267607060, ClinGen CA019143, ClinVar RCV000017496, UniProt VAR 065208, Pathogenic, Childhood onset GLUT1 deficiency syndrome 2
- M96T (p.Met96Thr), rs1643481875, ClinGen CA339961417, ClinVar RCV001051269, ClinVar RCV001449666, AlphaMissense 0.89, MetaLR 0.65, Conflicting interpretations, Inborn genetic diseases; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc
- M96V (p.Met96Val), rs753161833, ClinGen CA803565, ClinVar RCV000648089, ClinVar RCV001532534, REVEL 0.82, CADD 24.60, Pathogenic/Likely pathogenic, not provided; GLUT1 deficiency syndrome 1, autosomal recessive; Encephalopathy d
- M98I (p.Met98Ile), rs2124450464, ClinGen CA339961385, ClinVar RCV001981580, Ensembl rs2124450464, REVEL 0.15, CADD 18.80, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- M98V (p.Met98Val), rs2524998366, ClinGen CA339961394, ClinVar RCV002653556, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive; Childhood onset GLUT1 deficien
- M98R (p.Met98Arg), gnomAD rs1053525817, REVEL 0.82, CADD 25.40, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- M98T (p.Met98Thr), gnomAD rs1053525817
- M99L (p.Met99Leu), gnomAD rs1211054711, REVEL 0.19, AlphaMissense 0.11, Uncertain significance
- M99R (p.Met99Arg), rs2524998344, ClinGen CA339961367, ClinVar RCV003239128, Likely pathogenic, not provided
- M99V (p.Met99Val), rs1211054711, ClinGen CA339961378, NCI-TCGA Cosmic COSV6528, ClinVar RCV000792319, AlphaMissense 0.11, MetaLR 0.11, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- N100S (p.Asn100Ser), ExAC rs781571701, gnomAD rs781571701, REVEL 0.73, CADD 26.40
- L101V (p.Leu101Val), TOPMed rs1480260427, gnomAD rs1480260427
- L102P (p.Leu102Pro), rs2524998300, ClinGen CA339961326, ClinVar RCV003631990, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- L102V (p.Leu102Val), gnomAD rs1451513110, REVEL 0.55, CADD 23.30, Uncertain significance, Encephalopathy due to GLUT1 deficiency
- A103D (p.Ala103Asp), rs1175342430, ClinGen CA339961314, ClinVar RCV002886385, ClinVar RCV004763472, REVEL 0.73, AlphaMissense 0.97, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive; not provided
- A103S (p.Ala103Ser), ExAC rs755330447, gnomAD rs755330447, REVEL 0.25, CADD 22.90
- A103V (p.Ala103Val), rs1175342430, ClinGen CA339961311, ClinVar RCV002630926, TOPMed rs1175342430, AlphaMissense 0.97, MetaLR 0.60, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- F104C (p.Phe104Cys), rs2524998256, ClinGen CA2697552363, ClinVar RCV003517688, Pathogenic
- F104L (p.Phe104Leu), rs76672402, ClinGen CA803560, ClinVar RCV000311944, ClinVar RCV000350448, REVEL 0.36, CADD 9.46, Benign/Likely benign, Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
- V105L (p.Val105Leu), rs577667739, ClinGen CA339961288, ClinVar RCV000494313, ClinVar RCV002527078, AlphaMissense 0.15, MetaLR 0.32, Uncertain significance, Encephalopathy due to GLUT1 deficiency; GLUT1 deficiency syndrome 1, autosomal r
- V105M (p.Val105Met), rs577667739, ClinGen CA318425, ClinVar RCV000346798, ClinVar RCV000394308, REVEL 0.50, AlphaMissense 0.15, Conflicting interpretations, GLUT1 deficiency syndrome 1, autosomal recessive; Hereditary cryohydrocytosis wi
- A107T (p.Ala107Thr), rs775307302, ClinGen CA803557, ClinVar RCV002858368, ClinVar RCV005863751, REVEL 0.49, CADD 22.40, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- A107V (p.Ala107Val), Ensembl rs1377462340
- V108L (p.Val108Leu), rs74323945, ClinGen CA339961243, ClinVar RCV003517580, AlphaMissense 0.12, MetaLR 0.44, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- V108M (p.Val108Met), rs74323945, ClinGen CA803556, ClinVar RCV000730291, ClinVar RCV001855633, REVEL 0.31, AlphaMissense 0.12, Conflicting interpretations, not provided; Epilepsy, idiopathic generalized, susceptibility to, 12; Dystonia
- L109F (p.Leu109Phe), rs1436569888, ClinGen CA339961231, ClinVar RCV002298353, gnomAD rs1436569888, REVEL 0.39, AlphaMissense 0.13, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- L109R (p.Leu109Arg), rs2124450372, ClinGen CA339961223, ClinVar RCV001948721, Ensembl rs2124450372, AlphaMissense 0.94, MetaLR 0.80, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- L109V (p.Leu109Val), rs1436569888, ClinGen CA339961233, ClinVar RCV001988331, gnomAD rs1436569888, AlphaMissense 0.13, MetaLR 0.41, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- M110I (p.Met110Ile), gnomAD rs1643481003, REVEL 0.91, CADD 25.70
- G111C (p.Gly111Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G111V (p.Gly111Val), rs1399284513, ClinGen CA339961190, ClinVar RCV001100034, ClinVar RCV001102022, REVEL 0.90, CADD 25.90, Uncertain significance, Encephalopathy due to GLUT1 deficiency; Dystonia 9
- S113L (p.Ser113Leu), rs774348625, ClinGen CA803555, ClinVar RCV001221728, ClinVar RCV002316104, REVEL 0.77, AlphaMissense 0.78, Uncertain significance, Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
- S113W (p.Ser113Trp), rs774348625, ClinGen CA339961162, ClinVar RCV002927695, AlphaMissense 0.78, MetaLR 0.50, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G116D (p.Gly116Asp), ExAC rs769786931, gnomAD rs769786931, REVEL 0.52, CADD 22.30
- G116S (p.Gly116Ser), rs777945822, ClinGen CA803552, ClinVar RCV004458976, ExAC rs777945822, REVEL 0.22, CADD 19.60, Likely benign, Inborn genetic diseases
- K117R (p.Lys117Arg), ExAC rs748648403, TOPMed rs748648403, gnomAD rs748648403, REVEL 0.16, CADD 17.20, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- M121R (p.Met121Arg), rs2524998063, ClinGen CA339961038, ClinVar RCV002917768, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- L122V (p.Leu122Val), gnomAD rs1172279073, REVEL 0.63, CADD 19.30, Uncertain significance, not provided
- I123M (p.Ile123Met), rs1478488524, ClinGen CA339961002, ClinVar RCV001593884, TOPMed rs1478488524, AlphaMissense 0.25, MetaLR 0.55, Uncertain significance, not provided
- L124V (p.Leu124Val), rs2524998037, ClinGen CA339960998, ClinVar RCV002297886, Uncertain significance, GLUT1 deficiency syndrome 1, autosomal recessive
- G125A (p.Gly125Ala), rs781521534, ClinGen CA803549, ClinVar RCV001987841, ClinVar RCV003442973, REVEL 0.90, CADD 25.80, Uncertain significance, Childhood onset GLUT1 deficiency syndrome 2; Encephalopathy due to GLUT1 deficie
- R126C (p.Arg126Cys), rs80359818, ClinGen CA019162, ClinVar RCV000017498, ClinVar RCV000030838, REVEL 0.94, CADD 32.00, Pathogenic/Likely pathogenic, Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Chro
- R126H (p.Arg126His), rs80359816, ClinGen CA019167, ClinVar RCV000017491, ClinVar RCV000081432, REVEL 0.94, AlphaMissense 0.93, Pathogenic/Likely pathogenic, Inborn genetic diseases; not provided; GLUT1 deficiency syndrome 1, autosomal re
- R126L (p.Arg126Leu), rs80359816, ClinGen CA019172, ClinVar RCV000017489, ClinVar RCV002271987, AlphaMissense 0.93, MetaLR 0.93, Pathogenic, Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Chro
- F127V (p.Phe127Val), rs2524997985, ClinGen CA339960968, ClinVar RCV003990805, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 12
- I129M (p.Ile129Met), rs751907207, ClinGen CA803547, ClinVar RCV000704712, ClinVar RCV002360818, REVEL 0.47, CADD 0.98, Conflicting interpretations, GLUT1 deficiency syndrome 1, autosomal recessive; Inborn genetic diseases
- G130A (p.Gly130Ala), rs2524997940, ClinGen CA339960916, ClinVar RCV003631925, Likely pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive
- G130C (p.Gly130Cys), rs80359819, ClinGen CA339960920, ClinVar RCV001871273, Ensembl rs80359819, AlphaMissense 0.99, MetaLR 0.90, Pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive
- G130R (p.Gly130Arg), rs80359819, ClinGen CA318427, ClinVar RCV000189352, ClinVar RCV006362127, REVEL 0.94, AlphaMissense 0.99, Pathogenic, Inborn genetic diseases; not provided
- G130S (p.Gly130Ser), rs80359819, ClinGen CA21252051, ClinVar RCV000770978, ClinVar RCV001869075, REVEL 0.96, AlphaMissense 0.99, Pathogenic, GLUT1 deficiency syndrome 1, autosomal recessive; GLUT1 deficiency syndrome; Enc
- V131A (p.Val131Ala), rs987202561, ClinGen CA21252047, ClinVar RCV001214071, ClinVar RCV002287482, REVEL 0.30, CADD 22.90, Uncertain significance, Inborn genetic diseases; Hereditary cryohydrocytosis with reduced stomatin; Epil
Public SLC2A1 analysis runs
- SLC2A1 analysis run — SLC2A1 (865 variants) — completed 2026-08-18