P20Q (p.Pro20Gln) variant of CD40 (P25942)
P20Q (p.Pro20Gln) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 20-46121827-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.56
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available