E55* (p.Glu55Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E55* (p.Glu55Ter) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- rs2518844542
- ClinGen CA412348533
- ClinVar RCV003808679
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)