V22L (p.Val22Leu) variant of GABRB3 (P28472)
V22L (p.Val22Leu) 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, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- rs1891194646
- ClinGen CA391465584
- ClinVar RCV002572260
- Ensembl rs1891194646
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available