E47G (p.Glu47Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
E47G (p.Glu47Gly) 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.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- gnomAD X-41339072-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.32
- ESM-1b 0.77
- AlphaMissense 0.41
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available