A54V (p.Ala54Val) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A54V (p.Ala54Val) 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 0.64 / 1. The record also includes population frequency data and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- NCI-TCGA Cosmic COSV5559
- cosmic curated COSV55593
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- MetaLR 0.33
- MetaSVM -0.57
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available