G111C (p.Gly111Cys) variant of CD8A (P01732)
G111C (p.Gly111Cys) 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.
G111C (p.Gly111Cys) variant details
- p.Gly111Cys
- NCI-TCGA Cosmic COSV5215
- cosmic curated COSV52158
- ExAC rs121918660
- TOPMed rs121918660
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Pathogenic (in IMD116)
- UniProt: Pathogenic (in IMD116)