C174Y (p.Cys174Tyr) variant of NOTCH3 (Q9UM47)
C174Y (p.Cys174Tyr) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of NOTCH3-related disorder; Cerebral arteriopathy, autosomal dominant, with subcort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C174Y (p.Cys174Tyr) variant details
- p.Cys174Tyr
- rs1555729486
- ClinGen CA404533739
- ClinVar RCV000517015
- ClinVar RCV004527620
- Pathogenic
- NOTCH3-related disorder; Cerebral arteriopathy, autosomal dominant, with subcort
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (NOTCH3-related disorder; Cerebral arteriopathy, autosomal domina)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)
- Cited in: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)