C13R (p.Cys13Arg) variant of CD40 (P25942)
C13R (p.Cys13Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- gnomAD 20-46118380-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.62
- CADD 27.50
- PolyPhen-2 0.56
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available