R11P (p.Arg11Pro) variant of CD40LG (CD40 ligand)
R11P (p.Arg11Pro) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- gnomAD X-136648280-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.88
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available