I53V (p.Ile53Val) variant of CD40LG (CD40 ligand)
I53V (p.Ile53Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- gnomAD X-136650266-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -1.02
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available