R578C (p.Arg578Cys) variant of NOTCH3 (Q9UM47)
R578C (p.Arg578Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R578C (p.Arg578Cys) variant details
- p.Arg578Cys
- rs769773673
- ClinGen CA9263564
- ClinVar RCV000996814
- ClinVar RCV001800913
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.64
- AlphaMissense 0.75
- MetaLR 0.64
- MetaSVM 0.27
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the REMAINING population (allele frequency 0.00096)
- 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: Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report. (PMID 19153638)