R96S (p.Arg96Ser) variant of GABRB3 (P28472)
R96S (p.Arg96Ser) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
R96S (p.Arg96Ser) variant details
- p.Arg96Ser
- rs2140537271
- ClinGen CA391461386
- ClinVar RCV001381109
- Ensembl rs2140537271
- Pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available