H47L (p.His47Leu) variant of CD40LG (CD40 ligand)
H47L (p.His47Leu) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
H47L (p.His47Leu) variant details
- p.His47Leu
- TOPMed rs1008946391
- gnomAD rs1008946391
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.50
- MetaLR 0.45
- MetaSVM -0.12
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available