L17M (p.Leu17Met) variant of CD40LG (CD40 ligand)
L17M (p.Leu17Met) in CD40LG (CD40 ligand) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- TOPMed rs1359082888
- gnomAD rs1359082888
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.85
- CADD 7.26
- PolyPhen-2 0.23
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available