GABRG2 (P18507) variants and mutations
GABRG2 (also known as P18507) is a human protein-coding gene encoding a gamma-aminobutyric acid receptor subunit gamma-2 protein. The gene product supplies the gamma-2 subunit of synaptic GABA-A receptors, which are pentameric chloride channels activated by the inhibitory neurotransmitter GABA. The subunit helps receptor assembly and localization at neuronal membranes, and GABRG2 variants are associated with several epilepsy syndromes. This analysis covers 850 GABRG2 variants and mutations. Of these, 56% have computational variant effect predictions. Disease context includes Generalized epilepsy with febrile seizures-plus, childhood absence epilepsy, and epilepsy. Example GABRG2 variants include M1?, M1I, and M1V.
Variant analysis overview
- Gene: GABRG2
- Protein: P18507
- UniProt accession: P18507
- Organism: Homo sapiens
- Variants analyzed: 850
- Variant scope: all variants
- Completed: 2026-07-23
Variant and mutation evidence
- Variant composition: 706 unspecified-consequence records; 84 missense variants; 29 synonymous variants; 6 stop-gained variants; 8 frameshift variants; 2 in-frame deletions; 1 splice-region variants; 14 substitution
- Prediction scores: 477 variants have prediction scores (56% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Generalized epilepsy with febrile seizures-plus, childhood absence epilepsy, epilepsy, Seizure, Lennox-Gastaut syndrome, insomnia, migraine disorder, major depressive disorder, panic disorder, anxiety disorder, Agitation, Anxiety.
Protein structure and variant hotspots
- Protein features: 4 transmembrane segments; 3 post-translational modification sites.
- Structural context: 131 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 GABRG2 variants
Examples include M1?, M1I, M1V, M1L, M1T, S2G, S2R, S2I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV6272, cosmic curated COSV62722, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs1758351092, ClinGen CA362181706, ClinVar RCV001990993, MetaLR 0.36, MetaSVM -0.37, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- M1V (p.Met1Val), rs1581275976, ClinGen CA362181699, ClinVar RCV000987628, MetaLR 0.33, MetaSVM -0.43, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- M1L (p.Met1Leu), rs981001282, gnomAD 5-162036860-A-T, CADD 3.47, SIFT 0.51
- M1T (p.Met1Thr), rs1264939979, gnomAD 5-162036861-T-C, CADD 11.00, SIFT 0.01
- S2G (p.Ser2Gly), ExAC rs747787220, gnomAD rs747787220, CADD 23.40, PolyPhen-2 0.00
- S2R (p.Ser2Arg), rs1581276004, ClinGen CA362181713, ClinVar RCV002295237, Ensembl rs1581276004, CADD 23.20, PolyPhen-2 0.00, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- S2I (p.Ser2Ile), gnomAD 5-162068004-G-T, CADD 23.00, PolyPhen-2 0.00
- S3L (p.Ser3Leu), NCI-TCGA Cosmic COSV6271, cosmic curated COSV62716, CADD 23.10, PolyPhen-2 0.03, Variant assessed as somatic; moderate impact.
- S3P (p.Ser3Pro), ExAC rs769362559, gnomAD rs769362559, CADD 22.30, PolyPhen-2 0.00, Uncertain significance, Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- S3* (p.Ser3Ter), gnomAD 5-162068007-C-A, CADD 36.00
- S3S (p.Ser3Ser), rs55716248, gnomAD 5-162068008-G-A, CADD 12.50
- P4L (p.Pro4Leu), rs375295110, ClinGen CA314756, ClinVar RCV000819605, ClinVar RCV001704990, CADD 21.80, PolyPhen-2 0.00, Conflicting interpretations, Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- P4Q (p.Pro4Gln), ESP rs375295110, ExAC rs375295110, TOPMed rs375295110, gnomAD rs375295110, CADD 23.10, PolyPhen-2 0.14, Likely benign
- P4R (p.Pro4Arg), rs894465528, gnomAD 5-162036849-C-G, CADD 5.57, SIFT 0.00
- P4P (p.Pro4Pro), rs1025064733, gnomAD 5-162036850-G-T, CADD 1.65
- P4S (p.Pro4Ser), rs1293602718, gnomAD 5-162036854-C-T, CADD 17.10, SIFT 0.14
- P4H (p.Pro4His), gnomAD 5-162036855-C-A, CADD 17.80, SIFT 0.03
- P4T (p.Pro4Thr), gnomAD 5-162067628-C-A, CADD 2.93, SIFT 0.04
- N5Y (p.Asn5Tyr), rs774337016, ClinGen CA314759, ClinVar RCV000187540, ExAC rs774337016, CADD 23.10, PolyPhen-2 0.02, Uncertain significance, not provided
- N5D (p.Asn5Asp), gnomAD 5-162036845-A-G, CADD 6.77, SIFT 0.00
- N5S (p.Asn5Ser), gnomAD 5-162036846-A-G, CADD 3.94, SIFT 0.00
- N5K (p.Asn5Lys), gnomAD 5-162067639-C-A, CADD 0.09, SIFT 0.52
- I6M (p.Ile6Met), cosmic curated COSV10466, gnomAD rs1282599369, CADD 19.40, PolyPhen-2 0.01, Uncertain significance, not provided
- I6T (p.Ile6Thr), rs759392289, ClinGen CA3544639, ClinVar RCV000706834, ExAC rs759392289, CADD 13.10, PolyPhen-2 0.00, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- I6N (p.Ile6Asn), gnomAD 5-162068014-T-TA, CADD 25.20
- W7* (p.Trp7Ter), NCI-TCGA Cosmic COSV6272, ExAC rs764172866, gnomAD rs764172866, Uncertain significance
- W7C (p.Trp7Cys), rs764172866, ClinGen CA249329, cosmic curated COSV62722, ClinVar RCV000203127, CADD 26.20, PolyPhen-2 0.06, Uncertain significance, not specified; not provided
- W7L (p.Trp7Leu), cosmic curated COSV10968
- S8R (p.Ser8Arg), rs183259247, ClinGen CA3544640, ClinVar RCV000370448, 1000Genomes rs183259247, CADD 20.20, PolyPhen-2 0.00, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- S8G (p.Ser8Gly), gnomAD 5-162068021-A-G, CADD 23.10, PolyPhen-2 0.01
- S8N (p.Ser8Asn), gnomAD 5-162068022-G-A, CADD 20.20, PolyPhen-2 0.00
- T9P (p.Thr9Pro), rs2113080489, ClinGen CA362181751, ClinVar RCV001897254, Ensembl rs2113080489, CADD 20.60, PolyPhen-2 0.00, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- T9R (p.Thr9Arg), cosmic curated COSV62718
- T9I (p.Thr9Ile), gnomAD 5-162068025-C-T, CADD 15.80, PolyPhen-2 0.00
- G10R (p.Gly10Arg), rs1262705178, ClinGen CA362181759, ClinVar RCV001493850, ClinVar RCV005841814, CADD 22.50, PolyPhen-2 0.01, Conflicting interpretations, Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- G10W (p.Gly10Trp), gnomAD 5-162036902-G-T, CADD 9.42, SIFT 0.04
- G10E (p.Gly10Glu), gnomAD 5-162036903-G-A, CADD 4.29, SIFT 0.08
- G10A (p.Gly10Ala), gnomAD 5-162036903-G-C, CADD 0.30, SIFT 0.59
- G10V (p.Gly10Val), gnomAD 5-162036903-G-T, CADD 2.20, SIFT 0.25
- G10G (p.Gly10Gly), gnomAD 5-162036904-G-C, CADD 1.93
- G10* (p.Gly10Ter), gnomAD 5-162068027-G-T, CADD 36.00
- S11S (p.Ser11Ser), gnomAD 5-162068032-C-T, CADD 13.70
- S12L (p.Ser12Leu), NCI-TCGA Cosmic COSV6271, cosmic curated COSV62717, Variant assessed as somatic; moderate impact.
- S12P (p.Ser12Pro), gnomAD 5-162036875-T-C, CADD 13.80, SIFT 0.21
- S12* (p.Ser12Ter), rs988374313, gnomAD 5-162036876-C-A, CADD 33.00
- S12S (p.Ser12Ser), rs914133326, gnomAD 5-162036877-A-G, CADD 3.66
- V13I (p.Val13Ile), rs796052502, ClinGen CA314699, ClinVar RCV000187516, ClinVar RCV001302963, CADD 17.10, PolyPhen-2 0.01, Conflicting interpretations, not specified; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizur
- V13L (p.Val13Leu), gnomAD 5-162036851-G-T, CADD 4.23, SIFT 0.35
- V13V (p.Val13Val), rs1234715656, gnomAD 5-162036853-A-G, CADD 3.12
- V13F (p.Val13Phe), gnomAD 5-162036881-G-T, CADD 0.05, SIFT 0.11
- V13A (p.Val13Ala), gnomAD 5-162036882-T-C, CADD 3.03, SIFT 0.04
- Y14C (p.Tyr14Cys), rs61750979, ClinGen CA3544642, ClinVar RCV000794979, ClinVar RCV000998484, CADD 19.10, PolyPhen-2 0.08, Conflicting interpretations, Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE
- Y14S (p.Tyr14Ser), ExAC rs61750979, gnomAD rs61750979, CADD 18.00, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases
- Y14Y (p.Tyr14Tyr), gnomAD 5-162000215-T-C, CADD 0.58
- S15* (p.Ser15Ter), cosmic curated COSV62721, ExAC rs750798004, gnomAD rs750798004, CADD 34.00
- S15P (p.Ser15Pro), Ensembl rs2113080669, CADD 22.40
- S15W (p.Ser15Trp), ExAC rs750798004, gnomAD rs750798004, CADD 17.30, PolyPhen-2 0.44, Uncertain significance, Inborn genetic diseases
- S15R (p.Ser15Arg), rs1481640025, gnomAD 5-162068041-CT-C, CADD 24.90
- S15A (p.Ser15Ala), gnomAD 5-162068042-T-G, MetaLR 0.28, MetaSVM -0.86
- S15S (p.Ser15Ser), gnomAD 5-162068044-G-T, CADD 13.40
- T16I (p.Thr16Ile), gnomAD rs1758356167, CADD 21.90, PolyPhen-2 0.00
- T16T (p.Thr16Thr), gnomAD 5-162068047-T-C, CADD 14.80
- P17A (p.Pro17Ala), rs1429217294, ClinGen CA362181802, ClinVar RCV001036528, TOPMed rs1429217294, CADD 18.00, PolyPhen-2 0.01, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- P17S (p.Pro17Ser), TOPMed rs1429217294, gnomAD rs1429217294, Uncertain significance
- P17T (p.Pro17Thr), NCI-TCGA Cosmic COSV6271, cosmic curated COSV62717, Uncertain significance, not provided
- P17L (p.Pro17Leu), rs1757718622, gnomAD 5-162036879-C-T, CADD 6.33, SIFT 0.38
- P17R (p.Pro17Arg), gnomAD 5-162036879-C-G, CADD 10.40, SIFT 0.07
- P17P (p.Pro17Pro), rs140531380, gnomAD 5-162036880-C-T, CADD 2.67
- P17Q (p.Pro17Gln), rs538410005, gnomAD 5-162036915-C-A, CADD 6.58, SIFT 0.41
- V18I (p.Val18Ile), 1000Genomes rs141106898, ExAC rs141106898, TOPMed rs141106898, gnomAD rs141106898, CADD 18.20, PolyPhen-2 0.00, Benign
- V18L (p.Val18Leu), rs141106898, ClinGen CA3544644, ClinVar RCV000878421, ClinVar RCV002346041, CADD 18.20, PolyPhen-2 0.00, Benign/Likely benign, Inborn genetic diseases; Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSE
- V18F (p.Val18Phe), rs183044384, gnomAD 5-162036890-G-T, CADD 0.11, SIFT 0.55
- V18D (p.Val18Asp), rs1477501417, gnomAD 5-162036891-T-A, CADD 7.29, SIFT 0.07
- V18G (p.Val18Gly), rs1477501417, gnomAD 5-162036891-T-G, CADD 6.22, SIFT 0.12
- V18A (p.Val18Ala), rs1477501417, gnomAD 5-162036891-T-C, CADD 2.78, SIFT 0.38
- V18V (p.Val18Val), rs986434728, gnomAD 5-162036892-C-G, CADD 1.12
- F19L (p.Phe19Leu), rs957456458, gnomAD 5-162036884-T-C, CADD 7.61, SIFT 0.11
- F19S (p.Phe19Ser), gnomAD 5-162036885-T-C, CADD 10.40, SIFT 0.00
- F19F (p.Phe19Phe), gnomAD 5-162036886-C-T, CADD 2.75
- F19V (p.Phe19Val), gnomAD 5-162068054-T-G, MetaLR 0.28, MetaSVM -0.68
- S20* (p.Ser20Ter), cosmic curated COSV10743
- S20L (p.Ser20Leu), cosmic curated COSV62716
- S20P (p.Ser20Pro), TOPMed rs1160746956, gnomAD rs1160746956, CADD 22.50, PolyPhen-2 0.00
- S20A (p.Ser20Ala), gnomAD 5-162036901-TG-T, CADD 15.60
- S20G (p.Ser20Gly), gnomAD 5-162036905-A-G, CADD 6.00, SIFT 0.39
- S20C (p.Ser20Cys), gnomAD 5-162036905-A-T, CADD 15.40, SIFT 0.17
- S20R (p.Ser20Arg), gnomAD 5-162036905-A-C, CADD 13.10, SIFT 0.45
- S20I (p.Ser20Ile), rs865862133, gnomAD 5-162036906-G-T, CADD 7.36, SIFT 0.42
- S20N (p.Ser20Asn), gnomAD 5-162036906-G-A, CADD 4.82, SIFT 0.29
- S20S (p.Ser20Ser), rs1757719570, gnomAD 5-162036907-C-T, CADD 3.25
- Q21K (p.Gln21Lys), gnomAD 5-162036857-C-A, CADD 4.80, SIFT 0.11
- Q21E (p.Gln21Glu), rs1316736219, gnomAD 5-162036857-C-G, CADD 3.11, SIFT 0.78
- Q21L (p.Gln21Leu), rs1212308439, gnomAD 5-162036858-A-T, CADD 13.70, SIFT 0.02
- Q21R (p.Gln21Arg), rs1212308439, gnomAD 5-162036858-A-G, CADD 6.92, SIFT 0.05
- Q21H (p.Gln21His), gnomAD 5-162036859-G-T, CADD 3.24, SIFT 0.28
- Q21* (p.Gln21Ter), gnomAD 5-162036869-C-T, CADD 33.00
- Q21Q (p.Gln21Gln), rs537079267, gnomAD 5-162036898-G-A, CADD 0.90
- K22E (p.Lys22Glu), Ensembl rs1758358288
- K22I (p.Lys22Ile), cosmic curated COSV10072
- K22N (p.Lys22Asn), cosmic curated COSV10072
- K22Q (p.Lys22Gln), gnomAD 5-162036872-A-C, CADD 7.09, SIFT 0.46
- K22* (p.Lys22Ter), gnomAD 5-162036872-A-T, CADD 33.00
- K22T (p.Lys22Thr), rs1309815504, gnomAD 5-162036873-A-C, CADD 6.26, SIFT 0.46
- K22R (p.Lys22Arg), gnomAD 5-162036873-A-G, CADD 7.23, SIFT 0.45
- K22K (p.Lys22Lys), gnomAD 5-162036874-A-G, CADD 2.80
- T24A (p.Thr24Ala), rs796052516, ClinGen CA314762, cosmic curated COSV62717, ClinVar RCV000187541, CADD 20.30, PolyPhen-2 0.00, Uncertain significance, not provided
- T24K (p.Thr24Lys), rs1060501891, ClinGen CA16611804, ClinVar RCV000464179, Ensembl rs1060501891, AlphaMissense 0.10, MetaLR 0.21, Uncertain significance, Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- T24M (p.Thr24Met), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10072, CADD 21.50, PolyPhen-2 0.00, Uncertain significance, Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- T24R (p.Thr24Arg), rs1060501891, ClinGen CA362181852, ClinVar RCV001979188, Ensembl rs1060501891, AlphaMissense 0.10, MetaLR 0.21, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- T24S (p.Thr24Ser), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10072, NCI-TCGA Cosmic COSV6271, Variant assessed as somatic; moderate impact.
- T24T (p.Thr24Thr), rs1343042707, gnomAD 5-162068071-G-C, CADD 11.20
- V25G (p.Val25Gly), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10072, Variant assessed as somatic; moderate impact.
- V25M (p.Val25Met), NCI-TCGA Cosmic COSV6271, cosmic curated COSV62716, Variant assessed as somatic; moderate impact.
- V25V (p.Val25Val), gnomAD 5-162068074-G-C, CADD 10.60
- W26* (p.Trp26Ter), 1000Genomes rs564088820, gnomAD rs564088820, NCI-TCGA Cosmic COSV1007, cosmic curated COSV10072, Variant assessed as somatic; high impact.
- W26C (p.Trp26Cys), cosmic curated COSV62717
- W26G (p.Trp26Gly), rs1293775808, ClinGen CA362181862, ClinVar RCV002928829, gnomAD rs1293775808, CADD 24.90, PolyPhen-2 0.01, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- W26L (p.Trp26Leu), cosmic curated COSV62720
- I27N (p.Ile27Asn), cosmic curated COSV62717
- I27V (p.Ile27Val), rs766990192, ClinGen CA3544645, ClinVar RCV001034521, ExAC rs766990192, CADD 22.90, PolyPhen-2 0.00, Likely benign, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- I27L (p.Ile27Leu), gnomAD 5-162036926-A-T, CADD 1.39, SIFT 1.00
- I27T (p.Ile27Thr), gnomAD 5-162036927-T-C, CADD 6.73, SIFT 0.01
- I27M (p.Ile27Met), gnomAD 5-162036928-A-G, CADD 10.10, SIFT 0.05
- L28F (p.Leu28Phe), gnomAD 5-162000219-C-T, CADD 1.66, SIFT 0.32
- L28L (p.Leu28Leu), gnomAD 5-162000221-C-T, CADD 1.19
- L28M (p.Leu28Met), gnomAD 5-162036920-C-A, CADD 4.36, SIFT 0.20
- L28Q (p.Leu28Gln), gnomAD 5-162036921-T-A, CADD 18.20, SIFT 0.00
- L29F (p.Leu29Phe), rs2113081191, ClinGen CA362181881, ClinVar RCV002048438, Ensembl rs2113081191, CADD 22.70, PolyPhen-2 0.14, Uncertain significance, Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- L29H (p.Leu29His), cosmic curated COSV10072
- L29L (p.Leu29Leu), gnomAD 5-162068086-C-G, CADD 7.88
- L30P (p.Leu30Pro), rs2532460667, ClinGen CA362181887, ClinVar RCV002991492, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- L30L (p.Leu30Leu), rs1758360599, gnomAD 5-162068087-C-T, CADD 12.90
- L31del (p.Leu31del), rs770106632, gnomAD 5-162068086-CCTG-, CADD 22.00
- S32* (p.Ser32Ter), rs1758361435, ClinGen CA362181898, ClinVar RCV001060789, Ensembl rs1758361435, Pathogenic
- S32P (p.Ser32Pro), gnomAD 5-162036944-T-C, CADD 8.76, SIFT 0.27
- S32T (p.Ser32Thr), gnomAD 5-162036944-T-A, CADD 1.89, SIFT 0.48
- S32Y (p.Ser32Tyr), gnomAD 5-162036945-C-A, CADD 4.58, SIFT 1.00
- S32F (p.Ser32Phe), rs1757720059, gnomAD 5-162036945-C-T, CADD 6.19, SIFT 0.74
- S32S (p.Ser32Ser), rs1757720100, gnomAD 5-162036946-C-A, CADD 1.77
- L33F (p.Leu33Phe), gnomAD 5-162036938-C-T, CADD 6.87, SIFT 0.09
- L33I (p.Leu33Ile), gnomAD 5-162036938-C-A, CADD 5.25, SIFT 0.19
- L33P (p.Leu33Pro), gnomAD 5-162036939-T-C, CADD 14.70, SIFT 0.00
- L33L (p.Leu33Leu), gnomAD 5-162036940-T-G, CADD 2.25
- Y34C (p.Tyr34Cys), TOPMed rs1459935300, gnomAD rs1459935300, AlphaMissense 0.06, MetaLR 0.39
- Y34S (p.Tyr34Ser), rs1459935300, ClinGen CA362181910, ClinVar RCV003318916, AlphaMissense 0.06, MetaLR 0.39, Uncertain significance, not provided
- Y34H (p.Tyr34His), gnomAD 5-162068099-T-C, MetaLR 0.18, MetaSVM -0.82
- Y34Y (p.Tyr34Tyr), rs780713471, gnomAD 5-162068101-C-T, CADD 6.65
- P35H (p.Pro35His), cosmic curated COSV99054
- P35L (p.Pro35Leu), rs1189639394, ClinGen CA362181918, ClinVar RCV003793034, TOPMed rs1189639394, AlphaMissense 0.09, MetaLR 0.23, Uncertain significance, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- P35S (p.Pro35Ser), rs747649928, NCI-TCGA Cosmic COSV6271, cosmic curated COSV62717, NCI-TCGA Cosmic COSV9905, CADD 18.10, PolyPhen-2 0.00, Variant assessed as somatic; moderate impact.
- P35T (p.Pro35Thr), cosmic curated COSV99054
- P35A (p.Pro35Ala), rs209329, gnomAD 5-162036950-C-G, CADD 0.16, SIFT 0.79
- P35P (p.Pro35Pro), gnomAD 5-162036952-C-T, CADD 3.67
- G36A (p.Gly36Ala), gnomAD rs1266267390, CADD 33.00, PolyPhen-2 0.00, Uncertain significance
- G36D (p.Gly36Asp), rs1266267390, ClinGen CA362181922, cosmic curated COSV62718, ClinVar RCV002043954, CADD 33.00, PolyPhen-2 0.00, Uncertain significance, Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- G36S (p.Gly36Ser), rs866056788, ClinGen CA131108295, ClinVar RCV000800354, Ensembl rs866056788, CADD 20.00, PolyPhen-2 0.00, Uncertain significance, Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- G36C (p.Gly36Cys), gnomAD 5-162036941-G-T, CADD 15.10, SIFT 0.23
- G36V (p.Gly36Val), gnomAD 5-162036942-G-T, CADD 4.63, SIFT 0.59
- G36G (p.Gly36Gly), gnomAD 5-162036943-C-A, CADD 1.70
- F37V (p.Phe37Val), ExAC rs753427115, gnomAD rs753427115, CADD 19.40, PolyPhen-2 0.00
- F37L (p.Phe37Leu), gnomAD 5-162036929-T-C, CADD 1.88, SIFT 0.78
- F37S (p.Phe37Ser), gnomAD 5-162036930-T-C, CADD 15.60, SIFT 0.24
- F37F (p.Phe37Phe), gnomAD 5-162036931-C-T, CADD 2.25
- T38N (p.Thr38Asn), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10072, Variant assessed as somatic; moderate impact.
- S36del (p.Ser36del), gnomAD 5-162036942-GCTC-, CADD 3.30
- S39P (p.Ser39Pro), rs949992069, gnomAD 5-162036947-T-C, CADD 8.15, SIFT 0.20
- S39T (p.Ser39Thr), gnomAD 5-162036947-T-A, CADD 2.27, SIFT 0.39
- S39Y (p.Ser39Tyr), gnomAD 5-162036948-C-A, CADD 0.48, SIFT 1.00
- S39F (p.Ser39Phe), gnomAD 5-162036948-C-T, CADD 2.79, SIFT 0.66
- S39S (p.Ser39Ser), rs575089001, gnomAD 5-162036949-C-G, CADD 1.17
- Q40* (p.Gln40Ter), cosmic curated COSV62715
- Q40H (p.Gln40His), cosmic curated COSV10817
- Q40K (p.Gln40Lys), Ensembl rs2113297841
- K41T (p.Lys41Thr), rs756921875, ExAC rs756921875, gnomAD rs756921875, AlphaMissense 0.12, MetaLR 0.28, Variant assessed as somatic; moderate impact.
- S42Y (p.Ser42Tyr), cosmic curated COSV10968, CADD 23.00, PolyPhen-2 0.00
- D43V (p.Asp43Val), rs1760796569, ClinGen CA362182872, ClinVar RCV003796138, ClinVar RCV004780648, CADD 26.90, PolyPhen-2 0.67, Uncertain significance, not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure
- D43Y (p.Asp43Tyr), gnomAD 5-162000210-G-T, CADD 16.00, SIFT 0.01
- D43G (p.Asp43Gly), gnomAD 5-162000211-A-G, CADD 0.79, SIFT 0.02
- D43E (p.Asp43Glu), gnomAD 5-162000218-C-A, CADD 0.45, SIFT 0.75
Public GABRG2 analysis runs
- GABRG2 analysis run — GABRG2 (850 variants) — completed 2026-07-23