L118Q (p.Leu118Gln) variant of CD8A (P01732)
L118Q (p.Leu118Gln) 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 0.21 / 1. The record also includes population frequency data and structural context.
L118Q (p.Leu118Gln) variant details
- p.Leu118Gln
- rs753216829
- ClinGen CA1751222
- ClinVar RCV001295518
- ExAC rs753216829
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.13
- MetaLR 0.37
- MetaSVM -0.71
- CADD 18.10
- PolyPhen-2 0.88
- SIFT 0.01
- 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 1.7e-05)
- Structural context available