T52K (p.Thr52Lys) variant of CD40 (P25942)
T52K (p.Thr52Lys) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T52K (p.Thr52Lys) variant details
- p.Thr52Lys
- gnomAD 20-46122257-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.30
- MetaLR 0.72
- MetaSVM -0.14
- CADD 20.10
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available