I47V (p.Ile47Val) variant of HLA-B (P01889)
I47V (p.Ile47Val) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- ExAC rs151341106
- gnomAD rs151341106
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 13.50
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available