C117Y (p.Cys117Tyr) variant of NOTCH3 (Q9UM47)
C117Y (p.Cys117Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.98 / 1. The record also includes published literature and structural context.
C117Y (p.Cys117Tyr) variant details
- p.Cys117Tyr
- rs773539041
- ClinGen CA404534517
- ClinVar RCV000518059
- ClinVar RCV005901139
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: 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)