L100F (p.Leu100Phe) variant of CD8A (P01732)
L100F (p.Leu100Phe) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Susceptibility to respiratory infections associated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- rs79392961
- ClinGen CA1751231
- ClinVar RCV000544944
- ClinVar RCV004708931
- Benign/Likely benign
- not provided; not specified; Susceptibility to respiratory infections associated
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.58
- MetaLR 0.26
- MetaSVM -0.10
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Benign/Likely benign (not provided; not specified; Susceptibility to respiratory infec)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)