V36M (p.Val36Met) variant of HLA-C (P10321)
V36M (p.Val36Met) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- cosmic curated COSV66110
- 1000Genomes rs2308538
- ExAC rs2308538
- gnomAD rs2308538
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.0099)
- Structural context available