R607C (p.Arg607Cys) variant of NOTCH3 (Q9UM47)
R607C (p.Arg607Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R607C (p.Arg607Cys) variant details
- p.Arg607Cys
- rs777751303
- ClinGen CA9263542
- ClinVar RCV000415985
- ClinVar RCV000763036
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.71
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.18
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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: The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PMID 15229130)