L100F (p.Leu100Phe) variant of CD40LG (CD40 ligand)
L100F (p.Leu100Phe) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- gnomAD X-136654384-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- MetaLR 0.26
- MetaSVM -0.88
- CADD 6.48
- PolyPhen-2 0.00
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available