G12D (p.Gly12Asp) variant of CD40 (P25942)
G12D (p.Gly12Asp) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD 20-46118378-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.57
- CADD 29.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available