L82R (p.Leu82Arg) variant of CD40LG (CD40 ligand)
L82R (p.Leu82Arg) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L82R (p.Leu82Arg) variant details
- p.Leu82Arg
- 1000Genomes rs768391352
- ExAC rs768391352
- gnomAD rs768391352
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.64
- MetaLR 0.44
- MetaSVM -0.10
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.0064)
- Structural context available