C25R (p.Cys25Arg) variant of HLA-C (P10321)
C25R (p.Cys25Arg) in HLA-C (P10321) is a missense change. The available record places it in the context of in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*17:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C25R (p.Cys25Arg) variant details
- p.Cys25Arg
- 1000Genomes rs2074493
- ESP rs2074493
- ExAC rs2074493
- gnomAD rs2074493
- in allele C*03:02, allele C*03:04, allele C*04:01 and allele C*17:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available