A17G (p.Ala17Gly) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A17G (p.Ala17Gly) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, 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 0.48 / 1. The record also includes structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs1158832456
- ClinGen CA412762246
- cosmic curated COSV67863
- ClinVar RCV003014106
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- ESM-1b 0.87
- AlphaMissense 0.48
- MetaLR 0.14
- MetaSVM -0.89
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available