P20T (p.Pro20Thr) variant of CD40 (P25942)
P20T (p.Pro20Thr) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- gnomAD 20-46121826-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 14.30
- PolyPhen-2 0.21
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available