Y38H (p.Tyr38His) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Y38H (p.Tyr38His) in DDX3X (ATP-dependent RNA helicase DDX3X) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- cosmic curated COSV10593
- Uncertain significance
- Intellectual disability, X-linked 102
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.90
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, X-linked 102)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available