C43Y (p.Cys43Tyr) variant of NOTCH3 (Q9UM47)
C43Y (p.Cys43Tyr) 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 0.83 / 1. The record also includes published literature and structural context.
C43Y (p.Cys43Tyr) variant details
- p.Cys43Tyr
- rs1555730204
- ClinGen CA404483448
- ClinVar RCV000517549
- ClinVar RCV005431723
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.72
- MetaLR 1.00
- MetaSVM 0.47
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (not provided)
- 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)