R106C (p.Arg106Cys) variant of CD8A (P01732)
R106C (p.Arg106Cys) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Susceptibility to respiratory infections associated with CD8alpha chain mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R106C (p.Arg106Cys) variant details
- p.Arg106Cys
- rs200418942
- ClinGen CA1751227
- NCI-TCGA Cosmic COSV5215
- cosmic curated COSV52157
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.65
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)