A48V (p.Ala48Val) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A48V (p.Ala48Val) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- gnomAD 2-203870619-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- MetaLR 0.34
- MetaSVM -0.56
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available