R46Q (p.Arg46Gln) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R46Q (p.Arg46Gln) 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.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- gnomAD X-41339069-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available