S58* (p.Ser58Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
S58* (p.Ser58Ter) 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.
S58* (p.Ser58Ter) variant details
- p.Ser58Ter
- rs1602126980
- ClinGen CA412764733
- ClinVar RCV000990794
- Ensembl rs1602126980
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)