V49M (p.Val49Met) variant of HLA-B (P01889)
V49M (p.Val49Met) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- Ensembl rs41564319
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.20
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available