R90C (p.Arg90Cys) variant of NOTCH3 (Q9UM47)
R90C (p.Arg90Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R90C (p.Arg90Cys) variant details
- p.Arg90Cys
- rs1555729604
- ClinGen CA404534999
- ClinVar RCV000518819
- ClinVar RCV000760969
- Pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.75
- CADD 28.60
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PMID 10227618)
- Cited in: Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat… (PMID 10854111)