L35Q (p.Leu35Gln) variant of CD8A (P01732)
L35Q (p.Leu35Gln) 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 0.37 / 1.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- rs1673249799
- ClinGen CA347577311
- ClinVar RCV001049689
- Ensembl rs1673249799
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.13
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.36
- SIFT 0.04
- EVE 0.43
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance