E86V (p.Glu86Val) variant of CD40LG (CD40 ligand)
E86V (p.Glu86Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E86V (p.Glu86Val) variant details
- p.Glu86Val
- gnomAD X-136650366-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.36
- MetaLR 0.28
- MetaSVM -0.41
- CADD 23.90
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available