R59* (p.Arg59Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R59* (p.Arg59Ter) 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.
R59* (p.Arg59Ter) variant details
- p.Arg59Ter
- rs62653623
- ClinGen CA171618
- NCI-TCGA Cosmic COSV6611
- cosmic curated COSV66112
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)