V52M (p.Val52Met) variant of HLA-B (P01889)
V52M (p.Val52Met) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- ExAC rs281864591
- gnomAD rs281864591
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available