H42L (p.His42Leu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
H42L (p.His42Leu) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
H42L (p.His42Leu) variant details
- p.His42Leu
- gnomAD X-41339057-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available