L46R (p.Leu46Arg) variant of CD8A (P01732)
L46R (p.Leu46Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- rs1297804955
- ClinGen CA347577238
- ClinVar RCV001966575
- gnomAD rs1297804955
- Uncertain significance
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.77
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available