R41H (p.Arg41His) variant of HLA-C (P10321)
R41H (p.Arg41His) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- ExAC rs41560916
- gnomAD rs41560916
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.16
- CADD 19.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available