R178P (p.Arg178Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R178P (p.Arg178Pro) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R178P (p.Arg178Pro) variant details
- p.Arg178Pro
- rs267606715
- ClinGen CA121529
- ClinVar RCV000012262
- ClinVar RCV001035195
- Pathogenic/Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.13
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2; A)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. (PMID 18809835)
- Cited in: Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and… (PMID 19793311)