V172G (p.Val172Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V172G (p.Val172Gly) 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.
V172G (p.Val172Gly) variant details
- p.Val172Gly
- rs2518853529
- ClinGen CA412352420
- ClinVar RCV003809950
- 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)