D20Y (p.Asp20Tyr) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
D20Y (p.Asp20Tyr) 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 Intellectual disability, X-linked 102. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
D20Y (p.Asp20Tyr) variant details
- p.Asp20Tyr
- rs1569233520
- ClinGen CA412762287
- ClinVar RCV000785091
- Ensembl rs1569233520
- Uncertain significance
- Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.33
- MetaSVM -0.34
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, X-linked 102)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)