G12S (p.Gly12Ser) variant of CD40 (P25942)
G12S (p.Gly12Ser) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 20-46118377-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available