L32V (p.Leu32Val) variant of CD40LG (CD40 ligand)
L32V (p.Leu32Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- gnomAD X-136648342-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -1.00
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available