I47M (p.Ile47Met) variant of HLA-B (P01889)
I47M (p.Ile47Met) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- 1000Genomes rs1050502
- ExAC rs1050502
- gnomAD rs1050502
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 21.80
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available