R133C (p.Arg133Cys) variant of NOTCH3 (Q9UM47)
R133C (p.Arg133Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal dominant, with s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R133C (p.Arg133Cys) variant details
- p.Arg133Cys
- rs137852642
- ClinGen CA340890
- ClinVar RCV000009806
- ClinVar RCV000415016
- Pathogenic/Likely pathogenic
- Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal dominant, with s
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.86
- CADD 28.80
- PolyPhen-2 0.85
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Myofibromatosis, infantile, 2; Cerebral arteriopathy, autosomal)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.9e-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)