I53M (p.Ile53Met) variant of CD40LG (CD40 ligand)
I53M (p.Ile53Met) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I53M (p.Ile53Met) variant details
- p.Ile53Met
- gnomAD X-136650268-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.84
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available