N120S (p.Asn120Ser) variant of CD8A (P01732)
N120S (p.Asn120Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- rs201385983
- ClinGen CA1751219
- ClinVar RCV002003996
- 1000Genomes rs201385983
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.09
- MetaLR 0.15
- MetaSVM -0.96
- CADD 21.80
- PolyPhen-2 0.58
- SIFT 0.06
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available