V118M (p.Val118Met) variant of GABRB3 (P28472)
V118M (p.Val118Met) 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 0.69 / 1. The record also includes population frequency data and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- rs1281101862
- ClinGen CA391460876
- ClinVar RCV001315958
- TOPMed rs1281101862
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.62
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available