E28D (p.Glu28Asp) variant of CD40 (P25942)
E28D (p.Glu28Asp) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 20-46121852-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.18
- CADD 10.00
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available