M1V (p.Met1Val) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
M1V (p.Met1Val) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2519481019
- ClinGen CA412761404
- ClinVar RCV003577634
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- ESM-1b 1.00
- AlphaMissense 0.25
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available