P20L (p.Pro20Leu) variant of CD40 (P25942)
P20L (p.Pro20Leu) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 20-46121827-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available