R45S (p.Arg45Ser) variant of HLA-C (P10321)
R45S (p.Arg45Ser) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- cosmic curated COSV10469
- TOPMed rs72558135
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.14
- CADD 20.50
- PolyPhen-2 0.22
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available