C559Y (p.Cys559Tyr) variant of NOTCH3 (Q9UM47)
C559Y (p.Cys559Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
C559Y (p.Cys559Tyr) variant details
- p.Cys559Tyr
- rs2145433195
- ClinGen CA404525926
- ClinVar RCV002225148
- Ensembl rs2145433195
- Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.55
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)