F56L (p.Phe56Leu) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
F56L (p.Phe56Leu) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- NCI-TCGA Cosmic COSV5559
- cosmic curated COSV55593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- MetaLR 0.07
- MetaSVM -0.96
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available