G42V (p.Gly42Val) variant of HLA-C (P10321)
G42V (p.Gly42Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G42V (p.Gly42Val) variant details
- p.Gly42Val
- ExAC rs45574634
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available