E203G (p.Glu203Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E203G (p.Glu203Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 published literature and structural context.
E203G (p.Glu203Gly) variant details
- p.Glu203Gly
- rs1925697823
- ClinGen CA412353240
- ClinVar RCV001041809
- Ensembl rs1925697823
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)