R178G (p.Arg178Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R178G (p.Arg178Gly) 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 not provided; Angelman syndrome-like; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R178G (p.Arg178Gly) variant details
- p.Arg178Gly
- rs267608493
- ClinGen CA412352491
- ClinVar RCV001383655
- ClinVar RCV002221628
- Pathogenic
- not provided; Angelman syndrome-like; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (not provided; Angelman syndrome-like; Developmental and epilepti)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)