GABRA1 (P14867) variants and mutations
GABRA1 (also known as P14867) is a human protein-coding gene encoding a gamma-aminobutyric acid receptor subunit alpha-1 protein. The gene product supplies the alpha-1 subunit of a pentameric GABA-A receptor, a ligand-gated chloride channel in the brain. GABA binding allows chloride influx that dampens neuronal activity, making this receptor important for inhibition and seizure biology. This analysis covers 928 GABRA1 variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 19, juvenile myoclonic epilepsy, and epilepsy. Example GABRA1 variants include M1?, R2K, and R2W.
Variant analysis overview
- Gene: GABRA1
- Protein: P14867
- UniProt accession: P14867
- Organism: Homo sapiens
- Variants analyzed: 928
- Variant scope: all variants
- Completed: 2026-07-23
Variant and mutation evidence
- Variant composition: 798 unspecified-consequence records; 58 missense variants; 46 synonymous variants; 6 stop-gained variants; 8 frameshift variants; 1 in-frame deletions; 4 splice-region variants; 7 substitution
- Prediction scores: 481 variants have prediction scores (52% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: developmental and epileptic encephalopathy, 19, juvenile myoclonic epilepsy, epilepsy, major depressive disorder, Seizure, insomnia, migraine disorder, panic disorder, Agitation, anxiety disorder, alcohol dependence, Anxiety.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 3 binding sites; 2 post-translational modification sites.
- Structural context: 144 variants have structural context.
- PTM context: 7 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 GABRA1 variants
Examples include M1?, R2K, R2W, K3*, K3E, K3N, K3R, S4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R2K (p.Arg2Lys), rs2113293570, ClinGen CA362180968, cosmic curated COSV10721, ClinVar RCV002014007, REVEL 0.13, CADD 13.50, Likely pathogenic, Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- R2W (p.Arg2Trp), cosmic curated COSV50123
- K3* (p.Lys3Ter), NCI-TCGA Cosmic COSV5009, cosmic curated COSV50099, Variant assessed as somatic; high impact.
- K3E (p.Lys3Glu), TOPMed rs1757414410
- K3N (p.Lys3Asn), Ensembl rs1757414728, REVEL 0.12, CADD 17.90
- K3R (p.Lys3Arg), rs111452646, ClinGen CA131082092, ClinVar RCV001361955, gnomAD rs111452646, REVEL 0.15, CADD 0.13, Benign, Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- S4I (p.Ser4Ile), cosmic curated COSV10500, TOPMed rs796052487, gnomAD rs796052487, REVEL 0.06, CADD 19.00, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- S4N (p.Ser4Asn), rs796052487, ClinGen CA314659, ClinVar RCV000187491, ClinVar RCV001033996, REVEL 0.07, CADD 16.10, Benign/Likely benign, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- S4F (p.Ser4Phe), gnomAD 5-161850651-C-T, CADD 20.40, SIFT 0.02
- S4S (p.Ser4Ser), gnomAD 5-161850652-C-A, CADD 19.60
- S4C (p.Ser4Cys), gnomAD 5-161850820-A-T, REVEL 0.11, MetaLR 0.21
- P5S (p.Pro5Ser), rs866369940, ClinGen CA131082093, ClinVar RCV002000705, Ensembl rs866369940, AlphaMissense 0.08, MetaLR 0.20, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- P5A (p.Pro5Ala), gnomAD 5-161850677-C-G, CADD 18.20, SIFT 0.23
- P5L (p.Pro5Leu), gnomAD 5-161850824-C-T, REVEL 0.12, MetaLR 0.14
- G6C (p.Gly6Cys), rs1214814997, NCI-TCGA Cosmic COSV9919, cosmic curated COSV99195, TOPMed rs1214814997, REVEL 0.15, CADD 19.10, Variant assessed as somatic; moderate impact.
- G6R (p.Gly6Arg), TOPMed rs1214814997, gnomAD rs1214814997
- G6V (p.Gly6Val), NCI-TCGA Cosmic COSV9919, cosmic curated COSV99195, REVEL 0.13, CADD 18.00, Variant assessed as somatic; moderate impact.
- G6S (p.Gly6Ser), gnomAD 5-161850826-G-A, REVEL 0.06, MetaLR 0.21
- G6G (p.Gly6Gly), rs557682926, gnomAD 5-161850828-T-C, CADD 8.10
- L7P (p.Leu7Pro), TOPMed rs1757415562
- L7R (p.Leu7Arg), rs1757415562, ClinGen CA362181038, ClinVar RCV003009523, AlphaMissense 0.16, MetaLR 0.27, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- L7V (p.Leu7Val), gnomAD rs1484870497, REVEL 0.09, CADD 10.90
- L7L (p.Leu7Leu), gnomAD 5-161850831-G-T, CADD 3.60
- S8F (p.Ser8Phe), cosmic curated COSV50120, CADD 21.10
- S8P (p.Ser8Pro), NCI-TCGA TCGA novel, CADD 22.00, Variant assessed as somatic; moderate impact.
- S8T (p.Ser8Thr), TOPMed rs1187284959, gnomAD rs1187284959, REVEL 0.06, CADD 10.20
- S8S (p.Ser8Ser), gnomAD 5-161850661-C-A, CADD 19.80
- S8* (p.Ser8Ter), gnomAD 5-161850672-C-A, CADD 20.50
- D9E (p.Asp9Glu), rs113886269, cosmic curated COSV50098, ClinGen CA243192, ClinVar RCV000187498, REVEL 0.10, CADD 1.95, Conflicting interpretations, Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- D9H (p.Asp9His), gnomAD 5-161850835-G-C, REVEL 0.18, MetaLR 0.24
- D9D (p.Asp9Asp), rs113886269, gnomAD 5-161850837-C-T, CADD 2.65
- C10R (p.Cys10Arg), rs1217531305, ClinGen CA362181073, ClinVar RCV001522514, TOPMed rs1217531305, REVEL 0.22, CADD 15.80, Benign, Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- C10S (p.Cys10Ser), rs1476709358, ClinVar RCV004588657, TOPMed rs1476709358, gnomAD rs1476709358, REVEL 0.16, CADD 0.00, Uncertain significance, not provided
- L11H (p.Leu11His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L11P (p.Leu11Pro), rs762939760, ClinGen CA3544307, ClinVar RCV001441626, ClinVar RCV002555583, REVEL 0.57, CADD 23.80, Likely benign, Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- L11F (p.Leu11Phe), gnomAD 5-161850841-C-T, REVEL 0.16, MetaLR 0.26
- L11L (p.Leu11Leu), rs766418049, gnomAD 5-161850843-T-C, CADD 2.45
- W12* (p.Trp12Ter), cosmic curated COSV10721
- W12L (p.Trp12Leu), rs1757416348, ClinGen CA362181107, ClinVar RCV002829583, ClinVar RCV003274049, REVEL 0.36, CADD 19.10, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- A13G (p.Ala13Gly), cosmic curated COSV50099
- A13S (p.Ala13Ser), TOPMed rs1349103677
- A13T (p.Ala13Thr), cosmic curated COSV50100, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- A13D (p.Ala13Asp), gnomAD 5-161850657-C-A, CADD 19.40, SIFT 0.70
- A13A (p.Ala13Ala), gnomAD 5-161850658-T-G, CADD 19.90
- A13V (p.Ala13Val), rs1757414159, gnomAD 5-161850809-C-T, CADD 14.20, SIFT 0.10
- W14C (p.Trp14Cys), rs2113293899, ClinGen CA362181137, ClinVar RCV003806272, ClinVar RCV004784187, AlphaMissense 0.44, MetaLR 0.26, Conflicting interpretations, not provided; Developmental and epileptic encephalopathy, 19; Epilepsy, idiopath
- W14R (p.Trp14Arg), ExAC rs774587445, gnomAD rs774587445
- W14S (p.Trp14Ser), rs2532198229, ClinGen CA362181129, ClinVar RCV002306427, Uncertain significance, not provided
- I15M (p.Ile15Met), ExAC rs759784427, gnomAD rs759784427, Likely benign
- I15V (p.Ile15Val), rs1194108917, gnomAD 5-161850653-A-G, CADD 20.00, SIFT 0.97
- I15T (p.Ile15Thr), gnomAD 5-161850654-T-C, CADD 20.30, SIFT 0.10
- I15I (p.Ile15Ile), rs759784427, gnomAD 5-161850855-C-T, CADD 5.77
- L16F (p.Leu16Phe), cosmic curated COSV50101, ExAC rs767887700, gnomAD rs767887700
- L16I (p.Leu16Ile), cosmic curated COSV50107
- L16L (p.Leu16Leu), rs1554083720, gnomAD 5-161850858-C-T, CADD 4.17
- L17R (p.Leu17Arg), rs778424128, gnomAD 5-161850797-T-G, CADD 15.50, SIFT 0.01
- L17P (p.Leu17Pro), gnomAD 5-161850797-T-C, CADD 15.90, SIFT 0.01
- L18M (p.Leu18Met), cosmic curated COSV50102
- L18P (p.Leu18Pro), rs779065852, ClinGen CA131082095, NCI-TCGA Cosmic COSV5011, cosmic curated COSV50118, CADD 18.60, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- L18F (p.Leu18Phe), gnomAD 5-161850799-C-T, CADD 17.50, SIFT 0.71
- L18L (p.Leu18Leu), rs753085546, gnomAD 5-161850864-G-A, CADD 5.81
- S19N (p.Ser19Asn), NCI-TCGA Cosmic COSV9919, cosmic curated COSV99196, Variant assessed as somatic; moderate impact.
- S19C (p.Ser19Cys), gnomAD 5-161850680-A-T, CADD 21.60, SIFT 0.02
- S19S (p.Ser19Ser), gnomAD 5-161850867-C-T, CADD 6.79
- S19R (p.Ser19Arg), gnomAD 5-161850867-C-G, REVEL 0.40, MetaLR 0.21
- T20I (p.Thr20Ile), rs756553428, ClinGen CA3544313, ClinVar RCV000657882, ClinVar RCV001349497, REVEL 0.28, CADD 17.10, Conflicting interpretations, Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- T20P (p.Thr20Pro), rs2113294023, ClinGen CA362181198, ClinVar RCV001752207, ClinVar RCV005841833, AlphaMissense 0.13, MetaLR 0.18, Uncertain significance, Inborn genetic diseases; not provided
- T20T (p.Thr20Thr), gnomAD 5-161850870-A-G, CADD 1.18
- T22N (p.Thr22Asn), gnomAD rs1428599469, REVEL 0.09, CADD 15.20
- T22S (p.Thr22Ser), gnomAD 5-161850875-C-G, REVEL 0.11, MetaLR 0.21
- G23* (p.Gly23Ter), cosmic curated COSV10500
- G23A (p.Gly23Ala), 1000Genomes rs199819387, ExAC rs199819387, REVEL 0.29, CADD 17.90
- G23E (p.Gly23Glu), cosmic curated COSV50105, REVEL 0.24, CADD 20.40
- G23R (p.Gly23Arg), rs1757418419, ClinGen CA362181226, cosmic curated COSV50114, ClinVar RCV003783423, AlphaMissense 0.15, MetaLR 0.31, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- R24* (p.Arg24Ter), cosmic curated COSV50112, CADD 37.00
- R24G (p.Arg24Gly), NCI-TCGA TCGA novel, REVEL 0.24, CADD 22.50, Variant assessed as somatic; moderate impact.
- R24I (p.Arg24Ile), NCI-TCGA Cosmic COSV9919, cosmic curated COSV99196, Variant assessed as somatic; moderate impact.
- R24T (p.Arg24Thr), rs2532198341, ClinGen CA362181242, ClinVar RCV003135302, REVEL 0.33, CADD 19.30, Uncertain significance, Developmental and epileptic encephalopathy, 19
- R24del (p.Arg24del), gnomAD 5-161850877-GGAA-, CADD 19.00
- R24K (p.Arg24Lys), gnomAD 5-161850881-G-A, REVEL 0.11, MetaLR 0.21
- S25I (p.Ser25Ile), TOPMed rs1363320617, gnomAD rs1363320617, REVEL 0.39, CADD 34.00
- S25N (p.Ser25Asn), TOPMed rs1363320617, gnomAD rs1363320617, REVEL 0.23, CADD 34.00
- S25R (p.Ser25Arg), ESP rs75423500, ExAC rs75423500, gnomAD rs75423500, REVEL 0.41, CADD 19.20, Likely benign
- S25S (p.Ser25Ser), rs75423500, gnomAD 5-161854158-C-T, CADD 13.70
- Y26C (p.Tyr26Cys), TOPMed rs1011798545, gnomAD rs1011798545, REVEL 0.21, CADD 14.30
- Y26* (p.Tyr26Ter), gnomAD 5-161850676-T-G, CADD 18.10
- Y26H (p.Tyr26His), gnomAD 5-161854159-T-C, REVEL 0.24, MetaLR 0.29
- Y26N (p.Tyr26Asn), gnomAD 5-161854159-T-A, REVEL 0.25, MetaLR 0.30
- Y26F (p.Tyr26Phe), gnomAD 5-161854160-A-T, REVEL 0.18, MetaLR 0.18
- Y26Y (p.Tyr26Tyr), rs779666888, gnomAD 5-161854161-T-C, CADD 7.00
- G27E (p.Gly27Glu), rs866861998, ClinGen CA131082509, ClinVar RCV000768228, ClinVar RCV005213388, AlphaMissense 0.15, MetaLR 0.21, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epile
- G27R (p.Gly27Arg), cosmic curated COSV10453, Uncertain significance, Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- G27D (p.Gly27Asp), gnomAD 5-161854161-TG-T, CADD 29.70
- G27* (p.Gly27Ter), gnomAD 5-161854162-G-T, CADD 38.00
- G27G (p.Gly27Gly), gnomAD 5-161854164-A-G, CADD 9.87
- Q28* (p.Gln28Ter), cosmic curated COSV10801
- Q28H (p.Gln28His), rs1264701196, ClinGen CA362181461, ClinVar RCV002466327, Likely pathogenic, Epilepsy, idiopathic generalized, susceptibility to, 13
- Q28K (p.Gln28Lys), gnomAD 5-161850644-C-A, CADD 18.60, SIFT 0.72
- Q28R (p.Gln28Arg), rs1757406551, gnomAD 5-161850645-A-G, CADD 21.50, SIFT 0.63
- Q28E (p.Gln28Glu), gnomAD 5-161854165-C-G, REVEL 0.36, MetaLR 0.35
- Q28Q (p.Gln28Gln), rs1264701196, gnomAD 5-161854167-G-A, CADD 4.57
- P29L (p.Pro29Leu), rs200218956, ClinGen CA314688, ClinVar RCV000585014, ClinVar RCV001068548, REVEL 0.23, CADD 15.10, Conflicting interpretations, Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- P29Q (p.Pro29Gln), cosmic curated COSV50104, REVEL 0.17, CADD 13.20
- P29R (p.Pro29Arg), ExAC rs200218956, TOPMed rs200218956, gnomAD rs200218956, REVEL 0.31, CADD 12.00, Benign
- P29S (p.Pro29Ser), rs143815396, ClinGen CA245156, ClinVar RCV000645390, ClinVar RCV000724850, REVEL 0.11, CADD 14.00, Conflicting interpretations, Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- P29T (p.Pro29Thr), rs143815396, ClinGen CA362181462, ClinVar RCV003802111, 1000Genomes rs143815396, REVEL 0.17, CADD 9.16, Uncertain significance, Inborn genetic diseases; Epilepsy, idiopathic generalized, susceptibility to, 13
- P29A (p.Pro29Ala), rs1421737328, gnomAD 5-161850805-C-G, CADD 13.70, SIFT 0.31
- P29H (p.Pro29His), gnomAD 5-161850806-C-A, CADD 15.10, SIFT 0.02
- P29P (p.Pro29Pro), rs374399356, gnomAD 5-161854170-G-A, CADD 0.71
- S30* (p.Ser30Ter), gnomAD 5-161854172-C-A, CADD 37.00
- L31* (p.Leu31Ter), cosmic curated COSV10632
- L31F (p.Leu31Phe), rs747927213, ClinGen CA3544341, ClinVar RCV001155795, ClinVar RCV001434899, REVEL 0.24, CADD 8.35, Conflicting interpretations, Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- L31S (p.Leu31Ser), gnomAD 5-161854175-T-C, REVEL 0.17, MetaLR 0.18
- Q32* (p.Gln32Ter), rs769743354, ClinGen CA211941, ClinVar RCV000209844, ClinVar RCV000484867, CADD 40.00, Pathogenic
- Q32K (p.Gln32Lys), rs769743354, ClinGen CA3544342, ClinVar RCV000645389, ClinVar RCV002317400, REVEL 0.28, CADD 21.90, Uncertain significance, Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g
- Q32Q (p.Gln32Gln), rs76224028, gnomAD 5-161854179-A-G, CADD 7.85
- D33N (p.Asp33Asn), rs1172174788, ClinGen CA362181484, cosmic curated COSV10500, ClinVar RCV003801573, REVEL 0.36, CADD 33.00, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- D33Y (p.Asp33Tyr), NCI-TCGA Cosmic COSV9919, cosmic curated COSV99196, Variant assessed as somatic; moderate impact.
- D33H (p.Asp33His), gnomAD 5-161854180-G-C, REVEL 0.53, MetaLR 0.52
- D33G (p.Asp33Gly), gnomAD 5-161854181-A-G, REVEL 0.50, MetaLR 0.43
- E34K (p.Glu34Lys), cosmic curated COSV10453
- E34* (p.Glu34Ter), rs2113292749, gnomAD 5-161850665-G-T, CADD 23.00
- E34G (p.Glu34Gly), gnomAD 5-161850666-A-G, CADD 22.80, SIFT 0.14
- E34D (p.Glu34Asp), gnomAD 5-161850667-G-T, CADD 23.80, SIFT 0.49
- L35I (p.Leu35Ile), rs1463015106, ClinGen CA362181500, ClinVar RCV002639898, ClinVar RCV004973546, REVEL 0.13, CADD 17.40, Uncertain significance, Inborn genetic diseases; Idiopathic generalized epilepsy; Epilepsy, idiopathic g
- L35P (p.Leu35Pro), cosmic curated COSV50110
- L35V (p.Leu35Val), gnomAD 5-161854186-C-G, REVEL 0.13, MetaLR 0.24
- K36* (p.Lys36Ter), gnomAD 5-161850809-C-CGA, CADD 11.70
- D37E (p.Asp37Glu), gnomAD rs1167157957, REVEL 0.31, CADD 15.90
- D37D (p.Asp37Asp), rs1167157957, gnomAD 5-161854194-C-T, CADD 8.99
- N38D (p.Asn38Asp), TOPMed rs1388733494, gnomAD rs1388733494, REVEL 0.26, CADD 22.70
- N38Y (p.Asn38Tyr), cosmic curated COSV50098
- N38S (p.Asn38Ser), rs777580346, gnomAD 5-161850663-A-G, CADD 18.00, SIFT 0.99
- N38N (p.Asn38Asn), rs890318955, gnomAD 5-161850664-T-C, CADD 21.70
- T39T (p.Thr39Thr), rs1386307443, gnomAD 5-161854200-C-G, CADD 7.97
- T40I (p.Thr40Ile), gnomAD rs1329745637, REVEL 0.49, CADD 25.20
- T40S (p.Thr40Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T40N (p.Thr40Asn), gnomAD 5-161854202-C-A, REVEL 0.28, MetaLR 0.37
- T40T (p.Thr40Thr), gnomAD 5-161854203-T-C, CADD 9.21
- V41I (p.Val41Ile), NCI-TCGA Cosmic COSV5012, cosmic curated COSV50122, Variant assessed as somatic; moderate impact.
- V41F (p.Val41Phe), rs1237165467, gnomAD 5-161850641-G-T, CADD 19.80, SIFT 0.03
- V41G (p.Val41Gly), rs1411116374, gnomAD 5-161850642-T-G, CADD 20.60, SIFT 0.05
- V41A (p.Val41Ala), rs1411116374, gnomAD 5-161850642-T-C, CADD 19.30, SIFT 1.00
- V41V (p.Val41Val), gnomAD 5-161854206-C-A, CADD 7.63
- F42L (p.Phe42Leu), rs2113307162, ClinGen CA362181549, ClinVar RCV001376940, Ensembl rs2113307162, AlphaMissense 0.99, MetaLR 0.47, Likely pathogenic, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- F42V (p.Phe42Val), cosmic curated COSV50110
- T43I (p.Thr43Ile), cosmic curated COSV50122
- T43N (p.Thr43Asn), Ensembl rs1757555765
- T43T (p.Thr43Thr), gnomAD 5-161854212-C-T, CADD 5.66
- R44S (p.Arg44Ser), NCI-TCGA TCGA novel, Ensembl rs2113307198, Variant assessed as somatic; moderate impact.
- R44G (p.Arg44Gly), gnomAD 5-161854210-AC-A, CADD 32.00
- I45T (p.Ile45Thr), rs2532204989, ClinGen CA362181574, ClinVar RCV002466325, Likely pathogenic, Epilepsy, idiopathic generalized, susceptibility to, 13
- L46F (p.Leu46Phe), rs2532204992, ClinGen CA362181582, ClinVar RCV003014338, Uncertain significance, Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- L46W (p.Leu46Trp), gnomAD 5-161854216-AT-A, CADD 29.10
- D47G (p.Asp47Gly), Ensembl rs1757555890
- D47Y (p.Asp47Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D47E (p.Asp47Glu), gnomAD 5-161854224-C-A, REVEL 0.65, MetaLR 0.53
- R48G (p.Arg48Gly), gnomAD rs1423806899
- R48T (p.Arg48Thr), gnomAD 5-161854226-G-C, REVEL 0.62, MetaLR 0.47
- R48I (p.Arg48Ile), gnomAD 5-161854226-G-T, REVEL 0.73, MetaLR 0.66
- L49H (p.Leu49His), rs2532205020, ClinGen CA362181601, ClinVar RCV002855001, Conflicting interpretations, Inborn genetic diseases
- L49L (p.Leu49Leu), rs2113307246, gnomAD 5-161854230-C-A, CADD 2.92
- L50Q (p.Leu50Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L50R (p.Leu50Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L50L (p.Leu50Leu), rs2113307265, gnomAD 5-161854231-C-T, CADD 9.10
- D51G (p.Asp51Gly), ExAC rs745932197, gnomAD rs745932197, REVEL 0.77, CADD 27.50
- D51Y (p.Asp51Tyr), NCI-TCGA TCGA novel, REVEL 0.76, CADD 27.50, Variant assessed as somatic; moderate impact.
- D51E (p.Asp51Glu), gnomAD 5-161854236-T-A, REVEL 0.47, MetaLR 0.24
- G52C (p.Gly52Cys), gnomAD 5-161854237-G-T, REVEL 0.83, MetaLR 0.74
- G52A (p.Gly52Ala), gnomAD 5-161854238-G-C, REVEL 0.80, MetaLR 0.71
- G52G (p.Gly52Gly), rs1129647, gnomAD 5-161854239-T-C, CADD 8.56
- Y53L (p.Tyr53Leu), gnomAD 5-161854239-T-TC, CADD 29.00
- Y53C (p.Tyr53Cys), gnomAD 5-161854241-A-G, REVEL 0.95, MetaLR 0.89
- Y53Y (p.Tyr53Tyr), rs775714231, gnomAD 5-161854242-T-C, CADD 5.89
- D54E (p.Asp54Glu), gnomAD 5-161854245-C-A, REVEL 0.77, MetaLR 0.64
- R56C (p.Arg56Cys), NCI-TCGA Cosmic COSV5009, cosmic curated COSV50099, NCI-TCGA Cosmic COSV5010, REVEL 0.86, CADD 29.10, Likely pathogenic, not provided; Inborn genetic diseases
- R56H (p.Arg56His), rs2532205090, ClinGen CA362181649, ClinVar RCV002899536, ClinVar RCV005869922, REVEL 0.77, CADD 29.50, Uncertain significance, Developmental and epileptic encephalopathy, 19; Epilepsy, idiopathic generalized
- R56S (p.Arg56Ser), cosmic curated COSV50108, REVEL 0.79, CADD 24.70
- R56A (p.Arg56Ala), gnomAD 5-161854248-TC-T, CADD 28.20
Public GABRA1 analysis runs
- GABRA1 analysis run — GABRA1 (928 variants) — completed 2026-07-23