R558C (p.Arg558Cys) variant of NOTCH3 (Q9UM47)
R558C (p.Arg558Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NOTCH3-related disorder; not provided; Cerebral arteriopathy, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R558C (p.Arg558Cys) variant details
- p.Arg558Cys
- rs75068032
- ClinGen CA9263584
- ClinVar RCV000517370
- ClinVar RCV000763037
- Pathogenic/Likely pathogenic
- NOTCH3-related disorder; not provided; Cerebral arteriopathy, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.67
- CADD 29.40
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (NOTCH3-related disorder; not provided; Cerebral arteriopathy, au)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. (PMID 11102981)
- Cited in: Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. (PMID 11755616)