R153C (p.Arg153Cys) variant of NOTCH3 (Q9UM47)
R153C (p.Arg153Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Transient ischemic attack; Ischemic stroke; Cerebral arteriopathy, autosomal dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R153C (p.Arg153Cys) variant details
- p.Arg153Cys
- rs797045014
- ClinGen CA346917
- ClinVar RCV000190514
- ClinVar RCV000626690
- Pathogenic
- Transient ischemic attack; Ischemic stroke; Cerebral arteriopathy, autosomal dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.78
- CADD 29.10
- PolyPhen-2 0.85
- SIFT 0.04
- ClinVar: Pathogenic (Transient ischemic attack; Ischemic stroke; Cerebral arteriopath)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)