L81F (p.Leu81Phe) variant of CD40LG (CD40 ligand)
L81F (p.Leu81Phe) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L81F (p.Leu81Phe) variant details
- p.Leu81Phe
- ESP rs376406003
- TOPMed rs376406003
- gnomAD rs376406003
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.32
- MetaLR 0.38
- MetaSVM -0.62
- CADD 14.40
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available