R285G (p.Arg285Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R285G (p.Arg285Gly) 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 0.77 / 1. The record also includes published literature and structural context.
R285G (p.Arg285Gly) variant details
- p.Arg285Gly
- rs1926078505
- ClinGen CA412355761
- ClinVar RCV001227068
- Ensembl rs1926078505
- Pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)