R48G (p.Arg48Gly) variant of CD40LG (CD40 ligand)
R48G (p.Arg48Gly) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- gnomAD X-136648390-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.47
- MetaLR 0.36
- MetaSVM -0.56
- CADD 23.30
- PolyPhen-2 0.55
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available