P40T (p.Pro40Thr) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
P40T (p.Pro40Thr) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- gnomAD X-41339050-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available