V49G (p.Val49Gly) variant of HLA-C (P10321)
V49G (p.Val49Gly) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V49G (p.Val49Gly) variant details
- p.Val49Gly
- Ensembl rs2113915019
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available