H133Y (p.His133Tyr) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H133Y (p.His133Tyr) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The record also includes published literature and structural context.
H133Y (p.His133Tyr) variant details
- p.His133Tyr
- rs2518849341
- ClinGen CA412350411
- ClinVar RCV003802609
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)