C428Y (p.Cys428Tyr) variant of NOTCH3 (Q9UM47)
C428Y (p.Cys428Tyr) 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 0.97 / 1. The record also includes published literature and structural context.
C428Y (p.Cys428Tyr) variant details
- p.Cys428Tyr
- rs1568360455
- ClinGen CA404528054
- ClinVar RCV000710988
- UniProt VAR 044297
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- 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: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PMID 15364702)
- Cited in: Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (PMID 16009764)