C146R (p.Cys146Arg) variant of NOTCH3 (Q9UM47)
C146R (p.Cys146Arg) 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 0.99 / 1. The record also includes published literature and structural context.
C146R (p.Cys146Arg) variant details
- p.Cys146Arg
- rs1555729510
- ClinGen CA404534080
- ClinVar RCV000517564
- ClinVar RCV001001358
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 1.40
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- 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: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. (PMID 9388399)