C1015R (p.Cys1015Arg) variant of NOTCH3 (Q9UM47)
C1015R (p.Cys1015Arg) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C1015R (p.Cys1015Arg) variant details
- p.Cys1015Arg
- rs1599382214
- ClinGen CA404514323
- ClinVar RCV000990176
- ClinVar RCV001664595
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Population evidence available
- Structural context available
- Cited in: Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PMID 10371548)
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)