G111S (p.Gly111Ser) variant of CD8A (P01732)
G111S (p.Gly111Ser) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.68 / 1. The record also includes population frequency data and published literature.
G111S (p.Gly111Ser) variant details
- p.Gly111Ser
- rs121918660
- ClinGen CA122671
- ClinVar RCV000013579
- UniProt VAR 021020
- Pathogenic
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.67
- MetaLR 0.50
- MetaSVM 0.24
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Pathogenic (in IMD116)
- UniProt: Pathogenic (in IMD116)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Cited in: Familial CD8 deficiency due to a mutation in the CD8 alpha gene. (PMID 11435463)
- Cited in: Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies. (PMID 17658607)