G32R (p.Gly32Arg) variant of GABRB3 (P28472)
G32R (p.Gly32Arg) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs71651682
- ClinGen CA214946
- ClinVar RCV000017577
- ClinVar RCV001770039
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.44
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic (in ECA5)
- UniProt: Pathogenic (in ECA5)
- Population evidence available
- Structural context available
- Cited in: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PMID 18514161)
- Cited in: GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA)… (PMID 22303015)