L16F (p.Leu16Phe) variant of CD8A (P01732)
L16F (p.Leu16Phe) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.62 / 1. The record also includes population frequency data.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- rs200750291
- ClinGen CA1751311
- ClinVar RCV000893563
- ClinVar RCV004711378
- Likely benign
- not provided; not specified; Susceptibility to respiratory infections associated
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.53
- MetaLR 0.65
- MetaSVM 0.18
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.06
- ClinVar: Likely benign (not provided; not specified; Susceptibility to respiratory infec)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)