D51E (p.Asp51Glu) variant of CD40LG (CD40 ligand)
D51E (p.Asp51Glu) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- gnomAD X-136648401-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.38
- MetaLR 0.36
- MetaSVM -0.69
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available