L118R (p.Leu118Arg) variant of CD8A (P01732)
L118R (p.Leu118Arg) in CD8A (P01732) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L118R (p.Leu118Arg) variant details
- p.Leu118Arg
- ExAC rs753216829
- TOPMed rs753216829
- gnomAD rs753216829
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.79
- CADD 18.50
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available