L3S (p.Leu3Ser) variant of CD8A (P01732)
L3S (p.Leu3Ser) 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 0.16 / 1. The record also includes population frequency data.
L3S (p.Leu3Ser) variant details
- p.Leu3Ser
- rs1673268223
- ClinGen CA347577513
- ClinVar RCV001039298
- Ensembl rs1673268223
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.20
- MetaLR 0.07
- MetaSVM -0.89
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available