C13G (p.Cys13Gly) variant of CD40 (P25942)
C13G (p.Cys13Gly) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C13G (p.Cys13Gly) variant details
- p.Cys13Gly
- gnomAD 20-46118380-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.39
- CADD 24.90
- PolyPhen-2 0.21
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available