A70S (p.Ala70Ser) variant of GABRB3 (P28472)
A70S (p.Ala70Ser) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- gnomAD rs1406390237
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.42
- SIFT 0.14
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available