A14V (p.Ala14Val) variant of CD40LG (CD40 ligand)
A14V (p.Ala14Val) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD X-136648289-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.85
- CADD 15.30
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available