M1I (p.Met1Ile) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
M1I (p.Met1Ile) 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 DDX3X-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555950665
- ClinGen CA412761420
- ClinVar RCV003992865
- Pathogenic
- DDX3X-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.10
- MetaSVM -1.01
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Pathogenic (Intellectual disability, X-linked 102)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)