V118L (p.Val118Leu) variant of GABRB3 (P28472)
V118L (p.Val118Leu) in GABRB3 (P28472) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V118L (p.Val118Leu) variant details
- p.Val118Leu
- TOPMed rs1281101862
- gnomAD rs1281101862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.47
- CADD 22.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available