A17V (p.Ala17Val) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A17V (p.Ala17Val) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- cosmic curated COSV11606
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- ESM-1b 1.00
- AlphaMissense 0.63
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available