A43V (p.Ala43Val) variant of CD40LG (CD40 ligand)
A43V (p.Ala43Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- gnomAD X-136648376-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.39
- MetaLR 0.28
- MetaSVM -0.59
- CADD 24.10
- PolyPhen-2 0.48
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available