L46V (p.Leu46Val) variant of CD40LG (CD40 ligand)
L46V (p.Leu46Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- gnomAD X-136648384-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.43
- MetaLR 0.45
- MetaSVM -0.47
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available