E21K (p.Glu21Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E21K (p.Glu21Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs2518776911
- ClinGen CA412489611
- ClinVar RCV003812299
- Pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- MetaLR 0.31
- MetaSVM -0.36
- CADD 31.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)