Y38C (p.Tyr38Cys) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Y38C (p.Tyr38Cys) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Intellectual disability, X-linked 102. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- rs1555951993
- ClinGen CA412762885
- cosmic curated COSV67864
- ClinVar RCV000656409
- Pathogenic/Likely pathogenic
- not provided; Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.40
- PolyPhen-2 0.43
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Intellectual disability, X-linked 102)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)