E56K (p.Glu56Lys) variant of CD40LG (CD40 ligand)
E56K (p.Glu56Lys) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- gnomAD X-136650275-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- MetaLR 0.42
- MetaSVM -0.37
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available