E21G (p.Glu21Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
E21G (p.Glu21Gly) 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 CDKL5 disorder; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- rs587783406
- ClinGen CA171654
- ClinVar RCV000145546
- ClinVar RCV004724924
- Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)