I33V (p.Ile33Val) variant of CD40LG (CD40 ligand)
I33V (p.Ile33Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- TOPMed rs1306957056
- gnomAD rs1306957056
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.91
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available