E76Q (p.Glu76Gln) variant of CD40LG (CD40 ligand)
E76Q (p.Glu76Gln) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- gnomAD X-136650335-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- MetaLR 0.30
- MetaSVM -0.48
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available