G202E (p.Gly202Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G202E (p.Gly202Glu) 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 not provided; Developmental and epileptic encephalopathy, 2; Angelman syndrome-l. The record also includes published literature and structural context.
G202E (p.Gly202Glu) variant details
- p.Gly202Glu
- rs2518857357
- ClinGen CA412353226
- ClinVar RCV003037003
- ClinVar RCV003059895
- Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 2; Angelman syndrome-l
- Missense
- ClinVar: Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 2; Ang)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)