E56G (p.Glu56Gly) variant of CD40LG (CD40 ligand)
E56G (p.Glu56Gly) 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.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- gnomAD X-136650276-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.44
- MetaLR 0.42
- MetaSVM -0.19
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available