G213R (p.Gly213Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G213R (p.Gly213Arg) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
G213R (p.Gly213Arg) variant details
- p.Gly213Arg
- rs2147148092
- ClinGen CA412353368
- ClinVar RCV002022681
- ClinVar RCV005925575
- Likely pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)