G213E (p.Gly213Glu) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G213E (p.Gly213Glu) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2; CDKL5 dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G213E (p.Gly213Glu) variant details
- p.Gly213Glu
- rs1569215629
- ClinGen CA412353374
- ClinVar RCV000699805
- ClinVar RCV004723103
- Pathogenic/Likely pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2; CDKL5 dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)