R182C (p.Arg182Cys) variant of NOTCH3 (Q9UM47)
R182C (p.Arg182Cys) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R182C (p.Arg182Cys) variant details
- p.Arg182Cys
- rs28933697
- ClinGen CA340885
- NCI-TCGA Cosmic COSV5463
- ClinVar RCV000009801
- Pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.79
- MetaLR 0.80
- MetaSVM 0.79
- CADD 29.50
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)
- Cited in: Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PMID 10371548)