Q14E (p.Gln14Glu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Q14E (p.Gln14Glu) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q14E (p.Gln14Glu) variant details
- p.Gln14Glu
- gnomAD X-41334292-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- ESM-1b 0.29
- AlphaMissense 0.10
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available