E47K (p.Glu47Lys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
E47K (p.Glu47Lys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- gnomAD X-41339071-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 24.00
- PolyPhen-2 0.03
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available