W195C (p.Trp195Cys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
W195C (p.Trp195Cys) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The record also includes published literature and structural context.
W195C (p.Trp195Cys) variant details
- p.Trp195Cys
- rs2147147996
- ClinGen CA412353143
- ClinVar RCV003802065
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)