R46* (p.Arg46Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
R46* (p.Arg46Ter) in DDX3X (ATP-dependent RNA helicase DDX3X) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs1569234653
- ClinGen CA412763072
- NCI-TCGA Cosmic COSV1013
- cosmic curated COSV10130
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)