S74F (p.Ser74Phe) variant of CD8A (P01732)
S74F (p.Ser74Phe) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Susceptibility to respiratory infections associated with CD8alpha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S74F (p.Ser74Phe) variant details
- p.Ser74Phe
- rs754918271
- ClinGen CA1751248
- ClinVar RCV001957931
- ClinVar RCV004043041
- Uncertain significance
- not specified; Susceptibility to respiratory infections associated with CD8alpha
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- MetaLR 0.34
- MetaSVM -0.88
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Susceptibility to respiratory infections associat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available