L271P (p.Leu271Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L271P (p.Leu271Pro) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome. The record also includes published literature and structural context.
L271P (p.Leu271Pro) variant details
- p.Leu271Pro
- rs2518864219
- ClinGen CA412355070
- ClinVar RCV003050590
- ClinVar RCV004725490
- Pathogenic/Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)