E76K (p.Glu76Lys) variant of CD40LG (CD40 ligand)
E76K (p.Glu76Lys) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- gnomAD rs1329862058
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.24
- MetaLR 0.29
- MetaSVM -0.32
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available