R93S (p.Arg93Ser) variant of CD8A (P01732)
R93S (p.Arg93Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
R93S (p.Arg93Ser) variant details
- p.Arg93Ser
- rs2229240
- ClinGen CA1751236
- ClinVar RCV001046189
- 1000Genomes rs2229240
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.91
- CADD 19.20
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available