GABRB3 (P28472) variants and mutations
GABRB3 (also known as P28472) is a human protein-coding gene encoding a gamma-aminobutyric acid receptor subunit beta-3 protein. It contributes to inhibitory GABA-A receptor currents in the brain and is particularly important during neurodevelopment. Pathogenic variants can cause developmental and epileptic encephalopathy, while altered dosage within chromosome 15q11-q13 contributes to neurodevelopmental disorders. This analysis covers 888 GABRB3 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 43, epilepsy, and childhood absence epilepsy. Example GABRB3 variants include W2*, W2C, and W2R.
Variant analysis overview
- Gene: GABRB3
- Protein: P28472
- UniProt accession: P28472
- Organism: Homo sapiens
- Variants analyzed: 888
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 655 unspecified-consequence records; 2 natural variant; 1 stop lost; 65 missense variants; 150 synonymous variants; 5 frameshift variants; 2 stop-gained variants; 5 splice-region variants; 3 substitution
- Prediction scores: 601 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: developmental and epileptic encephalopathy, 43, epilepsy, childhood absence epilepsy, Lennox-Gastaut syndrome, Seizure, insomnia, major depressive disorder, migraine disorder, panic disorder, Agitation, anxiety disorder, Anxiety.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 10 binding sites; 3 post-translational modification sites.
- Structural context: 154 variants have structural context.
- PTM context: 3 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 GABRB3 variants
Examples include W2*, W2C, W2R, G3D, G3S, L4F, L4R, A5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- W2* (p.Trp2Ter), rs1891196840, ClinGen CA391465700, ClinVar RCV002825095, CADD 6.36, Pathogenic
- W2C (p.Trp2Cys), TOPMed rs1891196840, gnomAD rs1891196840, REVEL 0.40, CADD 23.40
- W2R (p.Trp2Arg), TOPMed rs1891196903, REVEL 0.37, CADD 23.30
- G3D (p.Gly3Asp), ExAC rs753024924, gnomAD rs753024924, REVEL 0.40, CADD 18.40
- G3S (p.Gly3Ser), TOPMed rs1891196762, gnomAD rs1891196762, REVEL 0.23, CADD 18.20
- L4F (p.Leu4Phe), gnomAD rs1333693263, REVEL 0.11, CADD 13.50
- L4R (p.Leu4Arg), rs2504096015, ClinGen CA391465688, ClinVar RCV002300145, REVEL 0.25, CADD 19.90, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- A5E (p.Ala5Glu), gnomAD rs1315237922, REVEL 0.13, CADD 18.10
- A5V (p.Ala5Val), gnomAD rs1315237922, REVEL 0.13, CADD 20.90
- G6* (p.Gly6Ter), gnomAD rs868185545, CADD 34.00, Uncertain significance
- G6A (p.Gly6Ala), ExAC rs765680963, TOPMed rs765680963, gnomAD rs765680963, REVEL 0.16, CADD 15.70, Uncertain significance
- G6E (p.Gly6Glu), ExAC rs765680963, TOPMed rs765680963, gnomAD rs765680963, REVEL 0.27, CADD 15.80, Uncertain significance, not provided
- G6R (p.Gly6Arg), rs868185545, ClinGen CA391465680, ClinVar RCV003321243, gnomAD rs868185545, REVEL 0.26, CADD 17.60, Uncertain significance, not provided
- G7A (p.Gly7Ala), NCI-TCGA Cosmic COSV1001, Variant assessed as somatic; moderate impact.
- G7E (p.Gly7Glu), rs777263662, NCI-TCGA Cosmic COSV1001, ExAC rs777263662, TOPMed rs777263662, REVEL 0.24, CADD 15.30, Benign, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- G7R (p.Gly7Arg), rs759931649, ClinGen CA7437589, ClinVar RCV001523561, ClinVar RCV003346604, REVEL 0.14, CADD 18.40, Benign/Likely benign, Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- L9F (p.Leu9Phe), 1000Genomes rs556238396, ExAC rs556238396, gnomAD rs556238396, REVEL 0.09, CADD 17.10, Benign
- L9I (p.Leu9Ile), rs556238396, ClinGen CA7437587, ClinVar RCV003800642, 1000Genomes rs556238396, REVEL 0.14, CADD 17.00, Benign, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- L9P (p.Leu9Pro), rs2504095953, ClinGen CA391465663, ClinVar RCV003323230, ClinVar RCV003777332, REVEL 0.42, CADD 21.80, Uncertain significance, not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child
- F10Y (p.Phe10Tyr), rs2140200011, ClinGen CA391465658, ClinVar RCV002295552, ClinVar RCV004729148, AlphaMissense 0.12, MetaLR 0.27, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- G11C (p.Gly11Cys), rs1158134414, ClinGen CA391465651, ClinVar RCV003907138, gnomAD rs1158134414, REVEL 0.41, CADD 23.40, Benign, GABRB3-related disorder
- G11S (p.Gly11Ser), gnomAD rs1158134414, REVEL 0.21, CADD 20.70, Benign, in ECA5, the mutant protein is hyperglycosylated and has reduced mean current de
- I12V (p.Ile12Val), rs1451852360, ClinGen CA391465646, ClinVar RCV001323683, TOPMed rs1451852360, REVEL 0.09, CADD 11.50, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- F13L (p.Phe13Leu), gnomAD rs1370466943, REVEL 0.14, CADD 18.90, Uncertain significance, Inborn genetic diseases
- S14* (p.Ser14Ter), gnomAD rs868500530, CADD 37.00
- S14A (p.Ser14Ala), rs2504095894, ClinGen CA391465630, ClinVar RCV003802461, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- S14L (p.Ser14Leu), gnomAD rs868500530, REVEL 0.35, CADD 23.10
- S14F (p.Ser14Phe), rs121913126, CADD 15.10, Conflicting interpretations, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- A15G (p.Ala15Gly), Ensembl rs1891195064, REVEL 0.18, CADD 22.80
- A15P (p.Ala15Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact., in ECA5, the mutant protein is hyperglycosylated and has reduced mean current de
- P16Q (p.Pro16Gln), rs1181620612, ClinGen CA391465618, ClinVar RCV002827890, gnomAD rs1181620612, REVEL 0.32, CADD 23.10, Uncertain significance, Inborn genetic diseases
- P16S (p.Pro16Ser), rs1242309134, ClinGen CA391465619, ClinVar RCV003804442, REVEL 0.22, CADD 21.00, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- P16T (p.Pro16Thr), gnomAD rs1242309134, REVEL 0.24, CADD 22.00
- V17L (p.Val17Leu), NCI-TCGA TCGA novel, REVEL 0.22, CADD 15.10, Variant assessed as somatic; moderate impact.
- L18Q (p.Leu18Gln), rs2140199978, ClinGen CA391465607, ClinVar RCV001904109, Ensembl rs2140199978, REVEL 0.45, CADD 24.00, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- V19L (p.Val19Leu), rs1891194798, ClinGen CA391465603, ClinVar RCV001035649, Ensembl rs1891194798, REVEL 0.20, CADD 16.60, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- A20V (p.Ala20Val), rs2140199975, ClinGen CA391465593, ClinVar RCV002027774, ClinVar RCV002551187, REVEL 0.23, CADD 22.90, Uncertain significance, Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- V21M (p.Val21Met), rs2504095804, ClinGen CA391465592, ClinVar RCV002353849, REVEL 0.11, CADD 18.60, Uncertain significance, Inborn genetic diseases
- V22L (p.Val22Leu), rs1891194646, ClinGen CA391465584, ClinVar RCV002572260, Ensembl rs1891194646, REVEL 0.14, CADD 22.80, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- A25S (p.Ala25Ser), rs1448726231, ClinGen CA391465562, ClinVar RCV001209401, ClinVar RCV003233995, REVEL 0.13, CADD 21.90, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- A25T (p.Ala25Thr), rs1448726231, ClinGen CA391465564, ClinVar RCV001422318, TOPMed rs1448726231, REVEL 0.16, CADD 22.60, Likely benign, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Q26* (p.Gln26Ter), rs867679278, ClinVar RCV004586380, CADD 37.00, Pathogenic
- Q26E (p.Gln26Glu), gnomAD rs867679278
- Q26K (p.Gln26Lys), gnomAD rs867679278, REVEL 0.20, CADD 22.10
- S27I (p.Ser27Ile), gnomAD rs865875277, REVEL 0.40, CADD 32.00
- V28A (p.Val28Ala), ExAC rs777797308, gnomAD rs777797308, REVEL 0.22, CADD 16.60
- V28L (p.Val28Leu), gnomAD rs1212831525, REVEL 0.25, CADD 17.70
- N29K (p.Asn29Lys), rs772263479, ClinGen CA391465520, ClinVar RCV001203891, ExAC rs772263479, REVEL 0.17, CADD 19.90, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- D30A (p.Asp30Ala), rs2504095267, ClinGen CA391465514, ClinVar RCV003810433, REVEL 0.27, CADD 23.20, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- D30N (p.Asp30Asn), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, REVEL 0.21, CADD 22.90, Variant assessed as somatic; moderate impact.
- P31F (p.Pro31Phe), rs2504095254, ClinGen CA2580089146, ClinVar RCV002943089, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- P31L (p.Pro31Leu), cosmic curated COSV54653, TOPMed rs1891188202, gnomAD rs1891188202, REVEL 0.56, CADD 24.60
- P31S (p.Pro31Ser), TOPMed rs1891188288, gnomAD rs1891188288, REVEL 0.27, CADD 22.60
- G32E (p.Gly32Glu), cosmic curated COSV10582, TOPMed rs1891187935, REVEL 0.47, CADD 22.50
- G32R (p.Gly32Arg), rs71651682, ClinGen CA214946, ClinVar RCV000017577, ClinVar RCV001770039, REVEL 0.44, CADD 22.30, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- N33K (p.Asn33Lys), ExAC rs748306024, TOPMed rs748306024, gnomAD rs748306024, REVEL 0.28, CADD 23.90, Likely benign
- S35T (p.Ser35Thr), TOPMed rs1891187674, REVEL 0.24, CADD 22.40
- E39K (p.Glu39Lys), rs1468792368, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, gnomAD rs1468792368, REVEL 0.27, CADD 22.80, Variant assessed as somatic; moderate impact.
- E39V (p.Glu39Val), rs2504095177, ClinGen CA391465451, ClinVar RCV004390142, REVEL 0.43, CADD 23.70, Uncertain significance, Inborn genetic diseases
- T40A (p.Thr40Ala), rs1426593784, ClinGen CA391465447, ClinVar RCV003783409, gnomAD rs1426593784, REVEL 0.52, CADD 24.50, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- T40K (p.Thr40Lys), TOPMed rs1178513934, gnomAD rs1178513934, REVEL 0.79, CADD 28.40, Uncertain significance
- T40M (p.Thr40Met), rs1178513934, ClinGen CA391465443, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, REVEL 0.76, CADD 28.50, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- V41M (p.Val41Met), TOPMed rs1334054422, gnomAD rs1334054422, REVEL 0.59, CADD 25.80
- D42G (p.Asp42Gly), gnomAD rs1180162727, REVEL 0.69, CADD 26.00
- K43R (p.Lys43Arg), rs780661570, ClinGen CA7437551, ClinVar RCV003319122, ExAC rs780661570, REVEL 0.34, CADD 20.60, Uncertain significance, not provided
- K46Q (p.Lys46Gln), rs1057520112, ClinGen CA16603241, ClinVar RCV000428980, ClinVar RCV002524718, REVEL 0.31, CADD 22.60, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- K46T (p.Lys46Thr), gnomAD rs1203622090
- G47A (p.Gly47Ala), gnomAD rs1321425602, REVEL 0.77, CADD 26.20
- Y48* (p.Tyr48Ter), Ensembl rs868652432, Likely benign
- Y48C (p.Tyr48Cys), rs2140199598, ClinGen CA391465393, ClinVar RCV001973689, NCI-TCGA TCGA novel, REVEL 0.94, CADD 31.00, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- D49E (p.Asp49Glu), rs557694936, ClinGen CA391465382, ClinVar RCV001034785, ClinVar RCV006256226, AlphaMissense 1.00, MetaLR 0.65, Pathogenic, Developmental and epileptic encephalopathy, 43
- D49G (p.Asp49Gly), rs2140199587, ClinGen CA391465385, ClinVar RCV002249048, Ensembl rs2140199587, REVEL 0.94, CADD 31.00, Likely pathogenic, Epilepsy, childhood absence, susceptibility to, 5
- D49N (p.Asp49Asn), rs2504095089, ClinGen CA391465389, ClinVar RCV003785346, REVEL 0.73, CADD 28.20, Uncertain significance, Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- R51C (p.Arg51Cys), NCI-TCGA Cosmic COSV5466, cosmic curated COSV54665, REVEL 0.92, CADD 33.00, Variant assessed as somatic; moderate impact.
- R51G (p.Arg51Gly), rs2140199581, ClinGen CA391465374, ClinVar RCV002255234, Ensembl rs2140199581, AlphaMissense 1.00, MetaLR 0.71, Uncertain significance, Developmental and epileptic encephalopathy, 43
- R51H (p.Arg51His), NCI-TCGA TCGA novel, REVEL 0.81, CADD 29.10, Variant assessed as somatic; moderate impact.
- L52V (p.Leu52Val), rs1057524415, ClinGen CA391465367, ClinVar RCV003019321, ClinVar RCV003147811, Pathogenic/Likely pathogenic, Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- R53I (p.Arg53Ile), NCI-TCGA TCGA novel, REVEL 0.91, CADD 30.00, Variant assessed as somatic; moderate impact.
- P54H (p.Pro54His), NCI-TCGA TCGA novel, REVEL 0.96, CADD 29.30, Variant assessed as somatic; moderate impact.
- P54S (p.Pro54Ser), rs2504095043, ClinGen CA391465354, ClinVar RCV003799910, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- D55N (p.Asp55Asn), rs537830865, NCI-TCGA Cosmic COSV5469, cosmic curated COSV54690, 1000Genomes rs537830865, REVEL 0.29, CADD 22.60, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- F56S (p.Phe56Ser), rs1891185887, ClinGen CA391465339, ClinVar RCV001231649, Ensembl rs1891185887, REVEL 0.87, CADD 32.00, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- G57R (p.Gly57Arg), rs1891185775, ClinGen CA391465334, ClinVar RCV001092402, ClinVar RCV003769025, REVEL 0.89, CADD 28.30, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- G57V (p.Gly57Val), Ensembl rs1891185709, REVEL 0.89, CADD 31.00
- G58C (p.Gly58Cys), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, REVEL 0.80, CADD 35.00, Variant assessed as somatic; moderate impact.
- G58V (p.Gly58Val), rs2504094130, ClinGen CA391465311, ClinVar RCV003040024, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- P59S (p.Pro59Ser), rs1555383878, ClinGen CA391465308, ClinVar RCV000525350, ClinVar RCV002413573, REVEL 0.26, CADD 21.90, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- P60L (p.Pro60Leu), NCI-TCGA Cosmic COSV5466, cosmic curated COSV54662, gnomAD rs1891175769, REVEL 0.77, CADD 28.90, Variant assessed as somatic; moderate impact.
- P60R (p.Pro60Arg), NCI-TCGA Cosmic COSV5466, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- V61I (p.Val61Ile), NCI-TCGA TCGA novel, REVEL 0.42, CADD 23.60, Variant assessed as somatic; moderate impact.
- C62G (p.Cys62Gly), rs1595363628, ClinGen CA391465290, ClinVar RCV000823421, Ensembl rs1595363628, AlphaMissense 0.05, MetaLR 0.17, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- G64E (p.Gly64Glu), rs1891175434, ClinGen CA391465274, ClinVar RCV002009397, TOPMed rs1891175434, AlphaMissense 0.98, MetaLR 0.39, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- G64R (p.Gly64Arg), rs2140199113, ClinGen CA391465277, ClinVar RCV001906215, Ensembl rs2140199113, REVEL 0.61, CADD 23.30, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- M65I (p.Met65Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N66K (p.Asn66Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N66S (p.Asn66Ser), cosmic curated COSV54670, gnomAD rs1360593791, REVEL 0.25, CADD 18.10
- N66Y (p.Asn66Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D68N (p.Asp68Asn), 1000Genomes rs2140199085, REVEL 0.31, CADD 22.60
- A70S (p.Ala70Ser), gnomAD rs1406390237, REVEL 0.44, CADD 22.40, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- S71I (p.Ser71Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S71N (p.Ser71Asn), TOPMed rs1469460053, gnomAD rs1469460053, REVEL 0.66, CADD 24.90
- I72S (p.Ile72Ser), TOPMed rs1302144860
- D73H (p.Asp73His), rs768859258, ClinGen CA16614336, ClinVar RCV000465465, TOPMed rs768859258, REVEL 0.80, CADD 28.20, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- M74L (p.Met74Leu), TOPMed rs1456675163, gnomAD rs1456675163, REVEL 0.40, CADD 21.90
- M74V (p.Met74Val), TOPMed rs1456675163, gnomAD rs1456675163, REVEL 0.39, CADD 20.60
- S76F (p.Ser76Phe), rs2504093929, ClinGen CA391465185, ClinVar RCV003812468, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- E77* (p.Glu77Ter), rs2504093926, ClinGen CA391465182, ClinVar RCV002446297, Uncertain significance
- E77D (p.Glu77Asp), rs151221282, ClinGen CA391465177, ClinVar RCV003787788, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- E77K (p.Glu77Lys), NCI-TCGA Cosmic COSV5468, cosmic curated COSV54683, Pathogenic, not provided
- V78D (p.Val78Asp), rs2504093906, ClinGen CA391465173, ClinVar RCV003801028, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- V78I (p.Val78Ile), Ensembl rs1891174440
- M80I (p.Met80Ile), rs2140199021, ClinGen CA391465158, ClinVar RCV001904970, Ensembl rs2140199021, REVEL 0.76, CADD 33.00, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- M80L (p.Met80Leu), rs72708067, ClinGen CA391465162, ClinVar RCV003805008, AlphaMissense 0.99, MetaLR 0.69, Pathogenic, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- M80R (p.Met80Arg), rs1064794797, ClinGen CA391465159, ClinVar RCV000677391, ClinVar RCV001308777, AlphaMissense 0.98, MetaLR 0.70, Conflicting interpretations, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- M80T (p.Met80Thr), rs1064794797, ClinGen CA16619912, ClinVar RCV000478028, ClinVar RCV000822033, AlphaMissense 0.98, MetaLR 0.70, Conflicting interpretations, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- M80V (p.Met80Val), 1000Genomes rs72708067, gnomAD rs72708067, REVEL 0.81, AlphaMissense 0.99, Pathogenic, Developmental and epileptic encephalopathy, 43
- D81=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- D81N (p.Asp81Asn), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, NCI-TCGA Cosmic COSV5467, Variant assessed as somatic; moderate impact.
- D81V (p.Asp81Val), rs2504330254, ClinGen CA391461887, ClinVar RCV003313588, Uncertain significance, not provided
- D81Y (p.Asp81Tyr), NCI-TCGA Cosmic COSV1001, NCI-TCGA Cosmic COSV5467, cosmic curated COSV54674, Variant assessed as somatic; moderate impact.
- Y82C (p.Tyr82Cys), rs1892483792, ClinGen CA391461846, ClinVar RCV001349445, Ensembl rs1892483792, AlphaMissense 0.98, MetaLR 0.79, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Y82H (p.Tyr82His), gnomAD rs1892483960, REVEL 0.92, CADD 28.50
- Y82S (p.Tyr82Ser), rs1892483792, ClinGen CA391461849, ClinVar RCV001905776, ClinVar RCV005057744, AlphaMissense 0.98, MetaLR 0.79, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- T83I (p.Thr83Ile), TOPMed rs1192355073, gnomAD rs1192355073, REVEL 0.88, CADD 27.90
- Q89E (p.Gln89Glu), Ensembl rs904100576, REVEL 0.68, CADD 25.70
- Q90* (p.Gln90Ter), gnomAD rs1199699671
- Y91H (p.Tyr91His), 1000Genomes rs1423283107, TOPMed rs1423283107, REVEL 0.50, CADD 22.90
- W92C (p.Trp92Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W92L (p.Trp92Leu), NCI-TCGA Cosmic COSV5468, Variant assessed as somatic; moderate impact.
- D94E (p.Asp94Glu), rs2140537278, ClinGen CA391461463, ClinVar RCV001776951, ClinVar RCV001885139, REVEL 0.90, CADD 23.90, Uncertain significance, not provided; Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, child
- D94Y (p.Asp94Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R96K (p.Arg96Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R96S (p.Arg96Ser), rs2140537271, ClinGen CA391461386, ClinVar RCV001381109, Ensembl rs2140537271, AlphaMissense 1.00, MetaLR 0.77, Pathogenic, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- L97F (p.Leu97Phe), NCI-TCGA Cosmic COSV5468, Variant assessed as somatic; moderate impact.
- A98T (p.Ala98Thr), rs756369937, ClinGen CA7437469, cosmic curated COSV54659, ClinVar RCV000646108, REVEL 0.42, CADD 22.60, Conflicting interpretations, Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Y99C (p.Tyr99Cys), rs1566778864, ClinGen CA391461320, cosmic curated COSV10588, ClinVar RCV000697686, AlphaMissense 0.95, MetaLR 0.72, Pathogenic/Likely pathogenic, Inborn genetic diseases; Epilepsy, childhood absence, susceptibility to, 1; Epil
- Y99S (p.Tyr99Ser), NCI-TCGA Cosmic COSV5468, Variant assessed as somatic; moderate impact.
- S100T (p.Ser100Thr), gnomAD rs1257480466, REVEL 0.19, CADD 19.20
- P103H (p.Pro103His), rs1892480524, ClinGen CA391461226, NCI-TCGA Cosmic COSV5467, cosmic curated COSV54674, AlphaMissense 0.21, MetaLR 0.45, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- P103S (p.Pro103Ser), rs267604145, ClinGen CA268161502, ClinVar RCV001867143, TOPMed rs267604145, REVEL 0.21, CADD 22.40, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- P103T (p.Pro103Thr), NCI-TCGA Cosmic COSV5466, cosmic curated COSV54663, Variant assessed as somatic; moderate impact.
- L104F (p.Leu104Phe), rs2140537193, ClinGen CA391461207, ClinVar RCV002020198, Ensembl rs2140537193, AlphaMissense 0.26, MetaLR 0.31, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- L104P (p.Leu104Pro), rs2140537185, ClinGen CA391461202, ClinVar RCV002038815, Ensembl rs2140537185, AlphaMissense 0.91, MetaLR 0.45, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- L104V (p.Leu104Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N105T (p.Asn105Thr), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, REVEL 0.41, CADD 23.10, Variant assessed as somatic; moderate impact.
- L106I (p.Leu106Ile), cosmic curated COSV54652, Ensembl rs1892480162
- T107M (p.Thr107Met), rs1347499222, ClinGen CA391461090, NCI-TCGA Cosmic COSV5466, cosmic curated COSV54661, REVEL 0.80, CADD 28.60, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- D109E (p.Asp109Glu), NCI-TCGA Cosmic COSV5467, cosmic curated COSV54674, Variant assessed as somatic; moderate impact.
- D109N (p.Asp109Asn), NCI-TCGA Cosmic COSV5466, cosmic curated COSV54661, Variant assessed as somatic; moderate impact.
- N110D (p.Asn110Asp), rs767830097, ClinGen CA391461012, ClinVar RCV002445812, ClinVar RCV005096226, AlphaMissense 0.79, MetaLR 0.56, Pathogenic/Likely pathogenic, not provided; Inborn genetic diseases
- N110H (p.Asn110His), Ensembl rs767830097, REVEL 0.72, AlphaMissense 0.79, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- N110S (p.Asn110Ser), rs751329477, ClinGen CA7437465, ClinVar RCV001562969, ClinVar RCV001865984, REVEL 0.37, CADD 23.80, Conflicting interpretations, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- R111* (p.Arg111Ter), rs942355738, ClinGen CA268161499, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, CADD 37.00, Pathogenic
- R111Q (p.Arg111Gln), rs777756010, ClinGen CA7437464, NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, REVEL 0.70, CADD 28.40, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- V112E (p.Val112Glu), rs1057524381, ClinGen CA16606904, ClinVar RCV000434227, Ensembl rs1057524381, AlphaMissense 0.99, MetaLR 0.55, Uncertain significance, not provided
- D114N (p.Asp114Asn), NCI-TCGA Cosmic COSV5468, cosmic curated COSV54686, Variant assessed as somatic; moderate impact.
- Q115* (p.Gln115Ter), rs1892478912, ClinGen CA391460933, ClinVar RCV001260772, Ensembl rs1892478912, Uncertain significance
- L116R (p.Leu116Arg), rs2504329497, ClinGen CA391460905, ClinVar RCV003237097, Uncertain significance, not provided
- L116V (p.Leu116Val), rs1555371873, ClinGen CA391460911, ClinVar RCV000658707, Ensembl rs1555371873, AlphaMissense 0.71, MetaLR 0.51, Uncertain significance, not provided
- W117C (p.Trp117Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W117L (p.Trp117Leu), NCI-TCGA Cosmic COSV5468, cosmic curated COSV54685, Variant assessed as somatic; moderate impact.
- V118G (p.Val118Gly), Ensembl rs1595489945
- V118L (p.Val118Leu), TOPMed rs1281101862, gnomAD rs1281101862, REVEL 0.47, CADD 22.40, Uncertain significance
- V118M (p.Val118Met), rs1281101862, ClinGen CA391460876, ClinVar RCV001315958, TOPMed rs1281101862, REVEL 0.62, CADD 25.60, Uncertain significance, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- P119S (p.Pro119Ser), NCI-TCGA Cosmic COSV5465, cosmic curated COSV54652, Variant assessed as somatic; moderate impact.
- D120N (p.Asp120Asn), rs886037938, ClinGen CA10586387, NCI-TCGA Cosmic COSV5465, NCI-TCGA Cosmic COSV5466, AlphaMissense 1.00, MetaLR 0.81, Pathogenic/Likely pathogenic, Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- D120Y (p.Asp120Tyr), NCI-TCGA Cosmic COSV5465, cosmic curated COSV54656, NCI-TCGA Cosmic COSV5466, Variant assessed as somatic; moderate impact., in DEE43
- T121S (p.Thr121Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y122N (p.Tyr122Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F123L (p.Phe123Leu), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, Variant assessed as somatic; moderate impact.
- L124F (p.Leu124Phe), rs1057519550, ClinGen CA16044329, ClinVar RCV000416972, ClinVar RCV003766176, AlphaMissense 0.91, MetaLR 0.44, Pathogenic/Likely pathogenic, Epileptic encephalopathy; Epilepsy, childhood absence, susceptibility to, 1; Epi
- L124V (p.Leu124Val), NCI-TCGA Cosmic COSV1001, NCI-TCGA Cosmic COSV5467, cosmic curated COSV54673, Variant assessed as somatic; moderate impact., in DEE43
- D126Y (p.Asp126Tyr), NCI-TCGA TCGA novel, Uncertain significance, Developmental and epileptic encephalopathy, 43
- K127E (p.Lys127Glu), rs2140536974, ClinGen CA391460803, ClinVar RCV001378721, Ensembl rs2140536974, AlphaMissense 1.00, MetaLR 0.80, Likely pathogenic, Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- K127R (p.Lys127Arg), rs1057519201, ClinGen CA16043848, ClinVar RCV000416050, ClinVar RCV000540777, AlphaMissense 0.58, MetaLR 0.68, Conflicting interpretations, Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- K128M (p.Lys128Met), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10016, Variant assessed as somatic; moderate impact.
- K128S (p.Lys128Ser), NCI-TCGA Cosmic COSV1001, Variant assessed as somatic; high impact.
- S129A (p.Ser129Ala), TOPMed rs1892477265
- S129V (p.Ser129Val), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- V131C (p.Val131Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
Public GABRB3 analysis runs
- GABRB3 analysis run — GABRB3 (888 variants) — completed 2026-08-20