G6PD (P11413) variants and mutations
G6PD (also known as P11413) is a human protein-coding gene encoding a glucose-6-phosphate 1-dehydrogenase protein. It generates NADPH through the pentose-phosphate pathway, providing red blood cells with the reducing power needed to withstand oxidative stress. Deficiency can trigger neonatal jaundice or acute hemolytic anemia after infections, fava beans, or oxidant drugs. This analysis covers 869 G6PD variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes anemia, nonspherocytic hemolytic, due to G6PD deficiency, anemia (phenotype), and G6PD deficiency. Example G6PD variants include M1?, E3K, and E3Q.
Variant analysis overview
- Gene: G6PD
- Protein: P11413
- UniProt accession: P11413
- Organism: Homo sapiens
- Variants analyzed: 869
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 642 unspecified-consequence records; 84 missense variants; 124 synonymous variants; 5 frameshift variants; 4 stop-gained variants; 5 splice-region variants; 1 in-frame insertions; 4 substitution
- Prediction scores: 582 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: anemia, nonspherocytic hemolytic, due to G6PD deficiency, anemia (phenotype), G6PD deficiency, hereditary disease, infection, non-autoimmune hemolytic anemia, hypercholesterolemia, familial, 1, cancer, congenital nonspherocytic hemolytic anemia, Congenital hemolytic anemia, chronic granulomatous disease, familial hemolytic anemia.
Protein structure and variant hotspots
- Protein features: 20 binding sites; 11 post-translational modification sites.
- PTM context: 10 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 G6PD variants
Examples include M1?, E3K, E3Q, Q4K, Q4R, A6V, S8C, S8I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV99682
- E3K (p.Glu3Lys), rs2070706721, ClinGen CA415202640, ClinVar RCV002305793, REVEL 0.46, CADD 18.90, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- E3Q (p.Glu3Gln), TOPMed rs2070706721
- Q4K (p.Gln4Lys), cosmic curated COSV10961
- Q4R (p.Gln4Arg), Ensembl rs1603415237
- A6V (p.Ala6Val), gnomAD rs1557233216, REVEL 0.61, CADD 18.70
- S8C (p.Ser8Cys), NCI-TCGA Cosmic COSV5483, cosmic curated COSV54838, Variant assessed as somatic; moderate impact.
- S8I (p.Ser8Ile), Ensembl rs2148350485
- R9Q (p.Arg9Gln), rs2070706009, ClinGen CA415202543, NCI-TCGA Cosmic COSV5483, cosmic curated COSV54838, REVEL 0.49, CADD 22.50, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R9W (p.Arg9Trp), rs1273138455, ClinGen CA415202546, ClinVar RCV002305800, TOPMed rs1273138455, REVEL 0.65, CADD 23.40, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Q11* (p.Gln11Ter), cosmic curated COSV10504
- Q11H (p.Gln11His), Ensembl rs1050827, REVEL 0.55, CADD 22.90
- Q11K (p.Gln11Lys), cosmic curated COSV54838
- V12G (p.Val12Gly), TOPMed rs1205973162, in Sinnai
- V12L (p.Val12Leu), rs797043472, ClinGen CA415202491, ClinVar RCV002305797, TOPMed rs797043472, REVEL 0.52, CADD 19.80, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- V12M (p.Val12Met), rs797043472, ClinGen CA415202497, ClinVar RCV003114923, TOPMed rs797043472, REVEL 0.51, CADD 22.80, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- G14R (p.Gly14Arg), Ensembl rs2070705276
- G14V (p.Gly14Val), rs2523308911, ClinGen CA415202451, ClinVar RCV003878300, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R17L (p.Arg17Leu), TOPMed rs1557233196, gnomAD rs1557233196, REVEL 0.66, CADD 21.80, Uncertain significance
- R17Q (p.Arg17Gln), rs1557233196, ClinGen CA415202427, cosmic curated COSV99682, ClinVar RCV003143438, REVEL 0.66, CADD 22.30, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R17W (p.Arg17Trp), cosmic curated COSV54838, Ensembl rs2070704766, REVEL 0.63, CADD 21.20, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Q22R (p.Gln22Arg), TOPMed rs2070704319, gnomAD rs2070704319, REVEL 0.46, CADD 18.90
- G23V (p.Gly23Val), rs2523308753, ClinGen CA415202241, ClinVar RCV002808224, Uncertain significance, Inborn genetic diseases
- D24E (p.Asp24Glu), rs1557233192, ClinGen CA415202214, ClinVar RCV001839227, gnomAD rs1557233192, REVEL 0.34, CADD 8.74, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- D24N (p.Asp24Asn), NCI-TCGA Cosmic COSV9968, cosmic curated COSV99682, REVEL 0.19, CADD 8.66, Variant assessed as somatic; moderate impact.
- A25S (p.Ala25Ser), rs782195369, ClinGen CA415202203, ClinVar RCV002298099, TOPMed rs782195369, AlphaMissense 0.07, MetaLR 0.79, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A25T (p.Ala25Thr), rs782195369, ClinGen CA337293004, ClinVar RCV003622307, TOPMed rs782195369, REVEL 0.52, AlphaMissense 0.07, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- F26L (p.Phe26Leu), NCI-TCGA Cosmic COSV5483, cosmic curated COSV54839, TOPMed rs1487624588, REVEL 0.53, CADD 22.40, Likely benign
- F26S (p.Phe26Ser), rs2523308623, ClinGen CA415202182, ClinVar RCV002296233, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- H27R (p.His27Arg), TOPMed rs1193184183, gnomAD rs1193184183, REVEL 0.52, CADD 18.50, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- H27Y (p.His27Tyr), rs2523308583, ClinGen CA415202168, ClinVar RCV003059144, REVEL 0.62, CADD 21.10, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Q28* (p.Gln28Ter), cosmic curated COSV10721
- Q28E (p.Gln28Glu), cosmic curated COSV10961
- Q28H (p.Gln28His), rs969180243, ClinGen CA337293003, cosmic curated COSV10504, ClinVar RCV003511091, REVEL 0.37, CADD 12.80, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- S29L (p.Ser29Leu), cosmic curated COSV54838, REVEL 0.37, CADD 22.50
- D30A (p.Asp30Ala), TOPMed rs1166565982, gnomAD rs1166565982, REVEL 0.41, CADD 21.30
- D30G (p.Asp30Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D30N (p.Asp30Asn), rs367607992, ClinGen CA337292997, ClinVar RCV003053692, Ensembl rs367607992, REVEL 0.36, AlphaMissense 0.12, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- D30Y (p.Asp30Tyr), rs367607992, ClinGen CA415202058, ClinVar RCV001169145, Ensembl rs367607992, AlphaMissense 0.12, MetaLR 0.88, Uncertain significance
- T31I (p.Thr31Ile), TOPMed rs1391965433, gnomAD rs1391965433, REVEL 0.50, CADD 21.80
- H32D (p.His32Asp), rs2070702973, ClinGen CA415202005, ClinVar RCV002305802, AlphaMissense 0.30, MetaLR 0.91, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- H32R (p.His32Arg), rs137852340, ClinGen CA121023, cosmic curated COSV10584, ClinVar RCV000011146, REVEL 0.78, CADD 23.40, Pathogenic/Likely pathogenic, Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc
- H32Y (p.His32Tyr), rs2070702973, ClinGen CA415202009, ClinVar RCV001969065, ClinVar RCV005432877, REVEL 0.69, AlphaMissense 0.30, Conflicting interpretations, not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- I33M (p.Ile33Met), Ensembl rs1163458456, REVEL 0.66, CADD 18.00
- I33T (p.Ile33Thr), rs398123552, ClinGen CA201564, ClinVar RCV000175655, ClinVar RCV005089541, REVEL 0.57, CADD 21.80, Pathogenic
- I33V (p.Ile33Val), rs2070702712, ClinGen CA415201977, ClinVar RCV003884024, Ensembl rs2070702712, AlphaMissense 0.12, MetaLR 0.83, Uncertain significance, not provided
- F34L (p.Phe34Leu), TOPMed rs1557233164, gnomAD rs1557233164, REVEL 0.71, CADD 22.60
- I35N (p.Ile35Asn), Ensembl rs1347654767
- I35T (p.Ile35Thr), Ensembl rs1347654767
- I36T (p.Ile36Thr), rs2523308345, ClinGen CA415201824, ClinVar RCV002305764, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- G38C (p.Gly38Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G38S (p.Gly38Ser), rs2523308296, ClinGen CA415201737, ClinVar RCV003490884, Uncertain significance, not specified
- S40L (p.Ser40Leu), cosmic curated COSV10721
- G41C (p.Gly41Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G41V (p.Gly41Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A44G (p.Ala44Gly), rs78478128, ClinGen CA121031, ClinVar RCV000011149, ClinVar RCV000699943, REVEL 0.97, CADD 29.90, Pathogenic/Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- A44T (p.Ala44Thr), rs2523273296, ClinGen CA415240196, ClinVar RCV002305760, Pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- K46E (p.Lys46Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I48T (p.Ile48Thr), rs76645461, ClinGen CA121021, ClinVar RCV000011145, ClinVar RCV000224890, REVEL 0.80, CADD 22.90, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- P50H (p.Pro50His), cosmic curated COSV10085
- P50S (p.Pro50Ser), rs2523273261, ClinGen CA415240119, ClinVar RCV002305814, ClinVar RCV004596536, REVEL 0.99, CADD 25.60, Likely pathogenic, not provided; G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD def
- T51I (p.Thr51Ile), rs2148332084, ClinGen CA415240100, cosmic curated COSV10652, ClinVar RCV001420431, AlphaMissense 0.97, MetaLR 0.98, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R57Q (p.Arg57Gln), rs1000937138, ClinGen CA337318662, ClinVar RCV002305815, Ensembl rs1000937138, REVEL 0.69, CADD 22.30, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R57W (p.Arg57Trp), rs2070404778, ClinGen CA415239980, ClinVar RCV003509093, Ensembl rs2070404778, REVEL 0.93, CADD 29.20, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- D58E (p.Asp58Glu), TOPMed rs77362384
- D58N (p.Asp58Asn), rs137852315, ClinGen CA120957, ClinVar RCV000011089, ClinVar RCV002305426, REVEL 0.72, CADD 23.90, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified
- L60P (p.Leu60Pro), rs2523272918, ClinGen CA415239936, ClinVar RCV002305816, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- P62H (p.Pro62His), rs2523272874, ClinGen CA415239911, ClinVar RCV002305817, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- P62L (p.Pro62Leu), rs2523272874, ClinGen CA415239907, ClinVar RCV002305818, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- P62S (p.Pro62Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E63A (p.Glu63Ala), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, Variant assessed as somatic; moderate impact.
- E63K (p.Glu63Lys), rs782674059, ClinGen CA10566303, NCI-TCGA Cosmic COSV6370, cosmic curated COSV63704, REVEL 0.51, CADD 13.50, Conflicting interpretations, not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- T65A (p.Thr65Ala), rs199474830, ClinGen CA337318611, ClinVar RCV000688144, Ensembl rs199474830, AlphaMissense 0.25, MetaLR 0.96, Uncertain significance
- T65N (p.Thr65Asn), rs2148331926, ClinGen CA415239864, ClinVar RCV002274637, Ensembl rs2148331926, AlphaMissense 0.72, MetaLR 0.98, Uncertain significance, not provided
- F66C (p.Phe66Cys), rs2523272843, ClinGen CA415239847, ClinVar RCV002305820, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- F66I (p.Phe66Ile), rs2070404146, ClinGen CA415239856, ClinVar RCV001877861, ClinVar RCV004801070, AlphaMissense 0.20, MetaLR 0.77, Conflicting interpretations, not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- F66L (p.Phe66Leu), TOPMed rs2070404146, Uncertain significance
- F66Y (p.Phe66Tyr), rs2523272843, ClinGen CA415239851, ClinVar RCV002305801, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- V68M (p.Val68Met), rs1050828, ClinGen CA090913, cosmic curated COSV63703, ClinVar RCV000011075, REVEL 0.83, CADD 23.90, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency; Inbor
- Y70C (p.Tyr70Cys), rs782090947, ClinGen CA10566301, ClinVar RCV000521290, ClinVar RCV001857951, REVEL 0.82, CADD 22.90, Pathogenic, in CNSHA1
- Y70H (p.Tyr70His), rs137852349, ClinGen CA121055, ClinVar RCV000011160, ClinVar RCV001264782, REVEL 0.91, CADD 24.80, Pathogenic/Likely pathogenic, not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A71V (p.Ala71Val), cosmic curated COSV63704
- R74C (p.Arg74Cys), rs781848254, ClinGen CA10566300, NCI-TCGA Cosmic COSV1008, ClinVar RCV001896502, REVEL 0.45, AlphaMissense 0.12, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R74G (p.Arg74Gly), rs781848254, ClinGen CA10605722, ClinVar RCV000298862, ExAC rs781848254, AlphaMissense 0.12, MetaLR 0.83, Uncertain significance, not provided
- R74H (p.Arg74His), rs782764007, ClinGen CA10566299, ClinVar RCV003080622, ExAC rs782764007, REVEL 0.39, CADD 17.10, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R74S (p.Arg74Ser), cosmic curated COSV10085
- L75P (p.Leu75Pro), rs2523272742, ClinGen CA415239727, ClinVar RCV002305824, UniProt VAR 002458, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- T76I (p.Thr76Ile), rs2148331887, ClinGen CA415239709, ClinVar RCV001962583, Ensembl rs2148331887, REVEL 0.80, AlphaMissense 0.70, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- T76K (p.Thr76Lys), rs2148331887, ClinGen CA415239714, ClinVar RCV002305825, ClinVar RCV003438995, AlphaMissense 0.70, MetaLR 0.98, Conflicting interpretations, not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- V77L (p.Val77Leu), Ensembl rs11555344
- A78D (p.Ala78Asp), TOPMed rs1224465881, REVEL 0.47, CADD 15.40
- D79H (p.Asp79His), rs2148331875, ClinGen CA415239672, ClinVar RCV001420430, Ensembl rs2148331875, AlphaMissense 0.41, MetaLR 0.97, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- D79N (p.Asp79Asn), cosmic curated COSV10820
- R81C (p.Arg81Cys), rs138687036, ClinGen CA10566297, cosmic curated COSV10889, ClinVar RCV002305762, REVEL 0.77, CADD 23.70, Pathogenic/Likely pathogenic, not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R81H (p.Arg81His), rs782308266, ClinGen CA10566296, cosmic curated COSV63704, ClinVar RCV002017043, REVEL 0.77, CADD 23.00, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not specified
- K82Q (p.Lys82Gln), rs782065240, ClinGen CA10566295, ClinVar RCV001509139, ClinVar RCV002564276, REVEL 0.33, CADD 12.20, Uncertain significance, not specified; not provided; Anemia, nonspherocytic hemolytic, due to G6PD defic
- S84N (p.Ser84Asn), rs141830127, ClinGen CA10566294, ClinVar RCV001924301, ESP rs141830127, REVEL 0.60, CADD 24.60, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- S84R (p.Ser84Arg), Ensembl rs1603411866, REVEL 0.63, CADD 17.80
- P86S (p.Pro86Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F87L (p.Phe87Leu), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, Variant assessed as somatic; moderate impact.
- F88L (p.Phe88Leu), rs781794862, ClinGen CA10566293, ClinVar RCV002195202, ClinVar RCV003388089, REVEL 0.53, CADD 15.80, Uncertain significance, not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A90P (p.Ala90Pro), gnomAD rs1557230658, REVEL 0.55, CADD 21.00
- P92Q (p.Pro92Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- P92S (p.Pro92Ser), cosmic curated COSV10970, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- E93K (p.Glu93Lys), rs782151545, ClinGen CA10566273, ClinVar RCV003840823, ExAC rs782151545, REVEL 0.50, CADD 16.20, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- E94D (p.Glu94Asp), Ensembl rs1436095586
- E94K (p.Glu94Lys), Ensembl rs2148331478
- K95Q (p.Lys95Gln), gnomAD rs1557230647, REVEL 0.40, CADD 14.90
- K97M (p.Lys97Met), rs782315044, ClinGen CA415239298, ClinVar RCV002305827, AlphaMissense 0.18, MetaLR 0.96, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- K97Q (p.Lys97Gln), ExAC rs782038151, gnomAD rs782038151, REVEL 0.38, CADD 17.70
- K97R (p.Lys97Arg), ExAC rs782315044, gnomAD rs782315044, REVEL 0.32, AlphaMissense 0.18
- K97T (p.Lys97Thr), ExAC rs782315044, gnomAD rs782315044, REVEL 0.43, AlphaMissense 0.18
- D100E (p.Asp100Glu), gnomAD rs1557230641, REVEL 0.30, CADD 6.07
- D100N (p.Asp100Asn), gnomAD rs1557230643, REVEL 0.30, CADD 18.70
- D100Y (p.Asp100Tyr), cosmic curated COSV63705
- F102C (p.Phe102Cys), gnomAD rs886044847, REVEL 0.86, AlphaMissense 0.60, Likely pathogenic
- F102L (p.Phe102Leu), TOPMed rs2070395578, gnomAD rs2070395578, REVEL 0.64, CADD 3.13
- F102S (p.Phe102Ser), rs886044847, ClinGen CA10605373, ClinVar RCV000285111, ClinVar RCV002305478, AlphaMissense 0.60, MetaLR 0.97, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; not provided
- A103V (p.Ala103Val), TOPMed rs1364562286, REVEL 0.51, CADD 20.10
- R104C (p.Arg104Cys), rs782372471, ClinGen CA10566268, NCI-TCGA Cosmic COSV6370, cosmic curated COSV63703, REVEL 0.59, CADD 21.20, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R104H (p.Arg104His), rs181277621, ClinGen CA10566267, cosmic curated COSV63704, ClinVar RCV000937220, REVEL 0.60, CADD 21.30, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- N105S (p.Asn105Ser), ExAC rs782668959, gnomAD rs782668959, REVEL 0.59, CADD 20.70, Uncertain significance
- N105T (p.Asn105Thr), rs782668959, ClinGen CA415239121, ClinVar RCV003622402, ExAC rs782668959, REVEL 0.68, CADD 21.50, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- S106C (p.Ser106Cys), rs267606835, ClinVar RCV000011127, ClinVar RCV002305434, UniProt VAR 002461, AlphaMissense 0.14, MetaLR 0.96, no classification for the single variant, in CNSHA1
- S106F (p.Ser106Phe), rs267606835, ClinGen CA10566265, NCI-TCGA Cosmic COSV1008, cosmic curated COSV10085, REVEL 0.69, AlphaMissense 0.14, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Y107F (p.Tyr107Phe), ExAC rs782177328
- Y107S (p.Tyr107Ser), ExAC rs782177328
- V108E (p.Val108Glu), rs1557230626, ClinGen CA415239051, ClinVar RCV002250000, gnomAD rs1557230626, REVEL 0.87, CADD 26.00, Pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A109S (p.Ala109Ser), TOPMed rs2070395090
- G110S (p.Gly110Ser), cosmic curated COSV10530
- Q111R (p.Gln111Arg), rs1435174977, ClinGen CA415238967, ClinVar RCV003623792, ClinVar RCV005934767, REVEL 0.41, CADD 18.70, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Y112H (p.Tyr112His), cosmic curated COSV63703
- D113G (p.Asp113Gly), ESP rs370451233, ExAC rs370451233, TOPMed rs370451233, gnomAD rs370451233, REVEL 0.43, CADD 21.20
- D113N (p.Asp113Asn), rs5030870, ClinGen CA10566262, ClinVar RCV000347245, ClinVar RCV002305477, REVEL 0.32, CADD 16.60, Uncertain significance, not specified; not provided; Anemia, nonspherocytic hemolytic, due to G6PD defic
- D113Y (p.Asp113Tyr), rs5030870, ClinGen CA415238923, ClinVar RCV001810613, ClinVar RCV006466223, REVEL 0.45, CADD 23.10, Uncertain significance
- D114G (p.Asp114Gly), cosmic curated COSV63703, ESP rs368618869, ExAC rs368618869, TOPMed rs368618869, REVEL 0.46, CADD 20.30
- D114H (p.Asp114His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A116P (p.Ala116Pro), rs2523271187, ClinGen CA415238866, ClinVar RCV003622074, REVEL 0.58, CADD 22.10, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A116V (p.Ala116Val), rs2523271180, ClinGen CA415238856, ClinVar RCV002918918, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Y118H (p.Tyr118His), rs2523271160, ClinGen CA415238829, ClinVar RCV002305829, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Y118S (p.Tyr118Ser), rs2148331380, ClinGen CA415238827, ClinVar RCV001420429, Ensembl rs2148331380, AlphaMissense 0.88, MetaLR 0.98, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Q119P (p.Gln119Pro), rs2523271147, ClinGen CA415238805, ClinVar RCV002305830, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R120C (p.Arg120Cys), ExAC rs782520647, gnomAD rs782520647
- R120H (p.Arg120His), rs782820967, ClinGen CA10566257, ClinVar RCV001418314, ExAC rs782820967, REVEL 0.36, CADD 15.20, Likely benign, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- R120L (p.Arg120Leu), rs782820967, ClinGen CA10566258, ClinVar RCV001964872, ExAC rs782820967, REVEL 0.49, CADD 14.10, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- N122K (p.Asn122Lys), cosmic curated COSV63702, TOPMed rs2070394626
- N122S (p.Asn122Ser), gnomAD rs1557230616, REVEL 0.33, CADD 4.47
- H124R (p.His124Arg), rs2523271102, ClinGen CA415238694, ClinVar RCV002305831, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- H124Y (p.His124Tyr), ExAC rs782050457, gnomAD rs782050457, REVEL 0.53, CADD 16.30, Uncertain significance, not provided
- M125I (p.Met125Ile), rs782130334, ClinVar RCV002305833, NCI-TCGA TCGA novel, ClinGen CA10566255, REVEL 0.37, CADD 0.20, no classification for the single variant, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- M125K (p.Met125Lys), Ensembl rs2148331355
- M125V (p.Met125Val), cosmic curated COSV10970, REVEL 0.41, CADD 1.55, Uncertain significance, not provided
- N126D (p.Asn126Asp), rs1050829, ClinGen CA120939, cosmic curated COSV63703, ClinVar RCV000011073, REVEL 0.27, CADD 4.20, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- N126S (p.Asn126Ser), Ensembl rs2148331342
- N126Y (p.Asn126Tyr), rs1050829, ClinGen CA10566254, ClinVar RCV002170707, ClinVar RCV005920955, REVEL 0.43, CADD 13.80, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A127S (p.Ala127Ser), rs2523271048, ClinVar RCV002305833, no classification for the single variant, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- L128P (p.Leu128Pro), rs78365220, ClinGen CA203034, ClinVar RCV000178824, ClinVar RCV000778895, REVEL 0.85, CADD 23.20, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- L128R (p.Leu128Arg), rs78365220, ClinGen CA415238638, ClinVar RCV001244181, ClinVar RCV003222271, REVEL 0.80, CADD 22.80, Pathogenic, in CNSHA1
- H129P (p.His129Pro), cosmic curated COSV63703, ExAC rs782402416, TOPMed rs782402416, gnomAD rs782402416, REVEL 0.45, CADD 10.90, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- H129Y (p.His129Tyr), gnomAD rs2070394247, REVEL 0.42, CADD 12.50
- G131E (p.Gly131Glu), 1000Genomes rs137852341, ExAC rs137852341, TOPMed rs137852341, gnomAD rs137852341, REVEL 0.72, CADD 16.90, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- G131V (p.Gly131Val), rs137852341, ClinGen CA121025, cosmic curated COSV10592, ClinVar RCV000011147, REVEL 0.85, CADD 21.70, Pathogenic/Likely pathogenic, not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due
- N135D (p.Asn135Asp), Ensembl rs387906469
- N135T (p.Asn135Thr), rs782322505, ClinGen CA10566250, ClinVar RCV001059211, ClinVar RCV001091837, REVEL 0.89, CADD 24.70, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- N135S (p.Asn135Ser), rs782668959, []
- R136C (p.Arg136Cys), rs979416826, ClinGen CA337318060, NCI-TCGA Cosmic COSV6370, cosmic curated COSV63703, REVEL 0.94, CADD 25.50, Likely pathogenic, not provided; Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due
- R136H (p.Arg136His), rs782205676, ClinGen CA10566249, ClinVar RCV003868842, ClinVar RCV005040586, REVEL 0.84, CADD 23.00, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- R136S (p.Arg136Ser), cosmic curated COSV63703
- L137F (p.Leu137Phe), rs2523270927, ClinGen CA415238554, ClinVar RCV002305834, ClinVar RCV003471321, REVEL 0.93, CADD 25.20, Likely pathogenic, Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici
- F138V (p.Phe138Val), cosmic curated COSV10085, Likely pathogenic, not provided
- Y139C (p.Tyr139Cys), rs1557230587, Ensembl rs1557230587, AlphaMissense 0.89, MetaLR 0.99, Variant assessed as somatic; moderate impact.
- A141D (p.Ala141Asp), cosmic curated COSV10747
- L142V (p.Leu142Val), rs1197584792, ClinGen CA415238506, ClinVar RCV002588121, ClinVar RCV003898817, REVEL 0.57, CADD 17.90, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- P144L (p.Pro144Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T145S (p.Thr145Ser), rs782264331, ClinGen CA10566246, ClinVar RCV003087172, ExAC rs782264331, REVEL 0.42, CADD 10.80, Conflicting interpretations, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- V146I (p.Val146Ile), TOPMed rs1557230580, gnomAD rs1557230580, REVEL 0.59, CADD 20.70, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Y147C (p.Tyr147Cys), gnomAD rs1557230578, REVEL 0.94, CADD 24.90
- E148K (p.Glu148Lys), rs1191977862, ClinGen CA415238440, cosmic curated COSV63702, ClinVar RCV002305835, REVEL 0.60, CADD 15.00, Likely pathogenic, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- A149D (p.Ala149Asp), cosmic curated COSV63703
- A149T (p.Ala149Thr), rs782669677, ClinGen CA10566245, ClinVar RCV002305721, ExAC rs782669677, REVEL 0.46, CADD 15.80, Uncertain significance, Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Public G6PD analysis runs
- G6PD analysis run — G6PD (869 variants) — completed 2026-08-10