R1031C (p.Arg1031Cys) variant of NOTCH3 (Q9UM47)
R1031C (p.Arg1031Cys) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R1031C (p.Arg1031Cys) variant details
- p.Arg1031Cys
- rs1285584068
- ClinGen CA404514218
- NCI-TCGA Cosmic COSV5462
- ClinVar RCV000517353
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.63
- CADD 23.40
- PolyPhen-2 0.77
- SIFT 0.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- 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: 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)