K50* (p.Lys50Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
K50* (p.Lys50Ter) 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 structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- rs1064796382
- ClinGen CA16621379
- NCI-TCGA Cosmic COSV1013
- cosmic curated COSV10130
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available