R178W (p.Arg178Trp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R178W (p.Arg178Trp) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R178W (p.Arg178Trp) variant details
- p.Arg178Trp
- rs267608493
- ClinGen CA199283
- ClinVar RCV000133373
- ClinVar RCV000169915
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.24
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Population evidence available
- Structural context available
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)
- Cited in: Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (PMID 12736870)