R44K (p.Arg44Lys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R44K (p.Arg44Lys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R44K (p.Arg44Lys) variant details
- p.Arg44Lys
- gnomAD X-41339063-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available