I87V (p.Ile87Val) variant of CD40LG (CD40 ligand)
I87V (p.Ile87Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- ESP rs369975696
- ExAC rs369975696
- TOPMed rs369975696
- gnomAD rs369975696
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.95
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available