L277S (p.Leu277Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L277S (p.Leu277Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
L277S (p.Leu277Ser) variant details
- p.Leu277Ser
- rs2147156094
- ClinGen CA412355603
- ClinVar RCV001940015
- Ensembl rs2147156094
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.98
- MetaLR 0.49
- MetaSVM 0.14
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.49
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)