R57G (p.Arg57Gly) variant of CD40LG (CD40 ligand)
R57G (p.Arg57Gly) in CD40LG (CD40 ligand) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R57G (p.Arg57Gly) variant details
- p.Arg57Gly
- gnomAD X-136650275-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available