R75C (p.Arg75Cys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R75C (p.Arg75Cys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R75C (p.Arg75Cys) variant details
- p.Arg75Cys
- TOPMed rs1289923555
- gnomAD rs1289923555
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.65
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available