C174R (p.Cys174Arg) variant of NOTCH3 (Q9UM47)
C174R (p.Cys174Arg) 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.
C174R (p.Cys174Arg) variant details
- p.Cys174Arg
- rs1599394806
- ClinGen CA404533742
- ClinVar RCV000999635
- ClinVar RCV002473162
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- 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: Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and… (PMID 12810003)
- Cited in: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PMID 15364702)