K52T (p.Lys52Thr) variant of CD40LG (CD40 ligand)
K52T (p.Lys52Thr) in CD40LG (CD40 ligand) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K52T (p.Lys52Thr) variant details
- p.Lys52Thr
- gnomAD X-136648403-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.40
- MetaLR 0.43
- MetaSVM -0.05
- CADD 29.30
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available