N45Y (p.Asn45Tyr) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
N45Y (p.Asn45Tyr) 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 0.82 / 1. The record also includes structural context.
N45Y (p.Asn45Tyr) variant details
- p.Asn45Tyr
- rs2519497548
- ClinGen CA412763042
- ClinVar RCV003324885
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- ESM-1b 1.00
- AlphaMissense 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available