R3S (p.Arg3Ser) variant of CD40 (P25942)
R3S (p.Arg3Ser) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- gnomAD 20-46118350-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available