G25V (p.Gly25Val) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G25V (p.Gly25Val) 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.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs2518781124
- ClinGen CA412489808
- ClinVar RCV003807977
- 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)