F114L (p.Phe114Leu) variant of CD8A (P01732)
F114L (p.Phe114Leu) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- rs1351080881
- ClinGen CA347576817
- ClinVar RCV004154930
- TOPMed rs1351080881
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.41
- MetaLR 0.40
- MetaSVM -0.34
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available