C251R (p.Cys251Arg) variant of NOTCH3 (Q9UM47)
C251R (p.Cys251Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 1.00 / 1. The record also includes published literature and structural context.
C251R (p.Cys251Arg) variant details
- p.Cys251Arg
- rs1568361608
- ClinGen CA404532533
- ClinVar RCV000711010
- ClinVar RCV003106028
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. (PMID 12146805)
- Cited in: The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PMID 15229130)