A5V (p.Ala5Val) variant of GABRB3 (P28472)
A5V (p.Ala5Val) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1315237922
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.13
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available