R45C (p.Arg45Cys) variant of HLA-C (P10321)
R45C (p.Arg45Cys) 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.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- TOPMed rs72558135
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available