D33V (p.Asp33Val) variant of HLA-C (P10321)
D33V (p.Asp33Val) in HLA-C (P10321) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D33V (p.Asp33Val) variant details
- p.Asp33Val
- cosmic curated COSV66112
- 1000Genomes rs1071650
- ExAC rs1071650
- gnomAD rs1071650
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.22
- CADD 6.99
- PolyPhen-2 0.64
- SIFT 0.31
- Most common in the HGDP:LAHU population (allele frequency 0.17)
- Structural context available