G57R (p.Gly57Arg) variant of GABRB3 (P28472)
G57R (p.Gly57Arg) 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 0.82 / 1. The record also includes population frequency data and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs1891185775
- ClinGen CA391465334
- ClinVar RCV001092402
- ClinVar RCV003769025
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.90
- SIFT 0.00
- 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