G50D (p.Gly50Asp) variant of HLA-C (P10321)
G50D (p.Gly50Asp) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- Ensembl rs281860344
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available