L47V (p.Leu47Val) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
L47V (p.Leu47Val) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD 2-203870615-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- MetaLR 0.19
- MetaSVM -0.93
- CADD 18.60
- PolyPhen-2 0.63
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available