L58* (p.Leu58Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L58* (p.Leu58Ter) 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.
L58* (p.Leu58Ter) variant details
- p.Leu58Ter
- rs875989950
- ClinGen CA10576343
- ClinVar RCV000211584
- Ensembl rs875989950
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)