A48G (p.Ala48Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A48G (p.Ala48Gly) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- gnomAD X-41339075-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available