A48D (p.Ala48Asp) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A48D (p.Ala48Asp) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- gnomAD X-41339075-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available