K46E (p.Lys46Glu) variant of CD40 (P25942)
K46E (p.Lys46Glu) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- gnomAD 20-46122238-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- MetaLR 0.77
- MetaSVM 0.08
- CADD 24.70
- PolyPhen-2 0.86
- SIFT 0.93
- Population evidence available
- Structural context available
- Literature evidence available