A68E (p.Ala68Glu) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
A68E (p.Ala68Glu) 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 0.29 / 1. The record also includes structural context.
A68E (p.Ala68Glu) variant details
- p.Ala68Glu
- rs1250603833
- ClinGen CA412764871
- ClinVar RCV003719144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.27
- MetaSVM -0.65
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available