C123F (p.Cys123Phe) variant of NOTCH3 (Q9UM47)
C123F (p.Cys123Phe) 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 0.98 / 1. The record also includes published literature and structural context.
C123F (p.Cys123Phe) variant details
- p.Cys123Phe
- rs2046935167
- ClinGen CA404534413
- ClinVar RCV001289345
- ClinVar RCV005601731
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 1.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- 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: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)
- Cited in: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PMID 15364702)