C65Y (p.Cys65Tyr) variant of NOTCH3 (Q9UM47)
C65Y (p.Cys65Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C65Y (p.Cys65Tyr) variant details
- p.Cys65Tyr
- rs1555730176
- ClinGen CA404483315
- ClinVar RCV001942733
- ClinVar RCV002291003
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)