G40D (p.Gly40Asp) variant of HLA-C (P10321)
G40D (p.Gly40Asp) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- ExAC rs751209811
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available