S24* (p.Ser24Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S24* (p.Ser24Ter) in DDX3X (ATP-dependent RNA helicase DDX3X) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S24* (p.Ser24Ter) variant details
- p.Ser24Ter
- rs2147340483
- ClinGen CA412762413
- NCI-TCGA Cosmic COSV6786
- cosmic curated COSV67863
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)