A9E (p.Ala9Glu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A9E (p.Ala9Glu) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD X-41334278-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.97
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available