R45H (p.Arg45His) variant of HLA-B (P01889)
R45H (p.Arg45His) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- cosmic curated COSV99070
- 1000Genomes rs11546719
- ExAC rs11546719
- gnomAD rs11546719
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- CADD 20.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.0058)
- Structural context available