R985C (p.Arg985Cys) variant of NOTCH3 (Q9UM47)
R985C (p.Arg985Cys) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R985C (p.Arg985Cys) variant details
- p.Arg985Cys
- rs1188569102
- ClinGen CA404514605
- ClinVar RCV000518693
- ClinVar RCV002289702
- Pathogenic/Likely pathogenic
- not provided; Cerebral arteriopathy, autosomal dominant, with subcortical infarc
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.67
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebral arteriopathy, autosomal dominant, with su)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Population evidence available
- 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: Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. (PMID 11755616)