R44S (p.Arg44Ser) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R44S (p.Arg44Ser) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- gnomAD X-41339064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 26.00
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available