V718M (p.Val718Met) variant of CDKL5 (Cyclin-dependent kinase-like 5)
V718M (p.Val718Met) 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 0.62 / 1. The record also includes published literature and structural context.
V718M (p.Val718Met) variant details
- p.Val718Met
- rs267608653
- ClinGen CA199279
- ClinVar RCV000133343
- ClinVar RCV000169912
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.95
- MetaLR 0.58
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: Key clinical features to identify girls with CDKL5 mutations. (PMID 18790821)
- Cited in: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders… (PMID 26993267)