H42R (p.His42Arg) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
H42R (p.His42Arg) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- gnomAD X-41339057-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available