E60G (p.Glu60Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E60G (p.Glu60Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The record also includes published literature and structural context.
E60G (p.Glu60Gly) variant details
- p.Glu60Gly
- rs2518844580
- ClinGen CA412348596
- ClinVar RCV003806293
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)