A48T (p.Ala48Thr) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A48T (p.Ala48Thr) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD X-41339074-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available