A13P (p.Ala13Pro) variant of CD8A (P01732)
A13P (p.Ala13Pro) 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 0.30 / 1. The record also includes population frequency data.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- rs754177445
- ClinGen CA1751314
- ClinVar RCV001319871
- ExAC rs754177445
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.78
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.16
- 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 0.00041)