Q69* (p.Gln69Ter) variant of CDKL5 (Cyclin-dependent kinase-like 5)
Q69* (p.Gln69Ter) 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.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs2518844612
- ClinGen CA412348653
- ClinVar RCV002421943
- ClinVar RCV005869828
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)