C65S (p.Cys65Ser) variant of NOTCH3 (Q9UM47)
C65S (p.Cys65Ser) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adams-Oliver syndrome 5; not provided; Cerebral arteriopathy, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C65S (p.Cys65Ser) variant details
- p.Cys65Ser
- rs1555730176
- ClinGen CA404483314
- ClinVar RCV000517084
- ClinVar RCV001253000
- Pathogenic/Likely pathogenic
- Adams-Oliver syndrome 5; not provided; Cerebral arteriopathy, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Adams-Oliver syndrome 5; not provided; Cerebral arteriopathy, au)
- 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)