R30M (p.Arg30Met) variant of HLA-C (P10321)
R30M (p.Arg30Met) 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.
R30M (p.Arg30Met) variant details
- p.Arg30Met
- 1000Genomes rs1131151
- ExAC rs1131151
- gnomAD rs1131151
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available