E139A (p.Glu139Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E139A (p.Glu139Ala) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The record also includes published literature and structural context.
E139A (p.Glu139Ala) variant details
- p.Glu139Ala
- rs2518851314
- ClinGen CA412350774
- ClinVar RCV003807749
- Pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)