R332C (p.Arg332Cys) variant of NOTCH3 (Q9UM47)
R332C (p.Arg332Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R332C (p.Arg332Cys) variant details
- p.Arg332Cys
- rs137852641
- ClinGen CA340889
- ClinVar RCV000009805
- ClinVar RCV000516507
- Pathogenic
- NOTCH3-related disorder; not provided; Cerebral arteriopathy, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.95
- MetaLR 0.87
- MetaSVM 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (NOTCH3-related disorder; not provided; Cerebral arteriopathy, au)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical… (PMID 11559313)
- Cited in: The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PMID 15229130)