D56G (p.Asp56Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
D56G (p.Asp56Gly) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D56G (p.Asp56Gly) variant details
- p.Asp56Gly
- TOPMed rs1012287078
- gnomAD rs1012287078
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Amish population (allele frequency 0.0058)
- Structural context available