C22F (p.Cys22Phe) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
C22F (p.Cys22Phe) 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 0.36 / 1. The record also includes population frequency data and structural context.
C22F (p.Cys22Phe) variant details
- p.Cys22Phe
- NCI-TCGA TCGA novel
- Ensembl rs1581571876
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- MetaLR 0.04
- MetaSVM -0.96
- CADD 3.01
- PolyPhen-2 0.04
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available