R51H (p.Arg51His) variant of CD8B (P10966)
R51H (p.Arg51His) in CD8B (P10966) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs772468080
- NCI-TCGA Cosmic COSV5892
- cosmic curated COSV58928
- ExAC rs772468080
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- MetaLR 0.25
- MetaSVM -0.79
- CADD 12.70
- PolyPhen-2 0.93
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available