E52* (p.Glu52Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E52* (p.Glu52Ter) 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.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- rs1925261282
- ClinGen CA412348490
- cosmic curated COSV10971
- ClinVar RCV001067845
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)