C65F (p.Cys65Phe) variant of NOTCH3 (Q9UM47)
C65F (p.Cys65Phe) 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 0.95 / 1. The record also includes published literature and structural context.
C65F (p.Cys65Phe) variant details
- p.Cys65Phe
- rs1555730176
- ClinGen CA404483313
- ClinVar RCV001248779
- ClinVar RCV004727046
- Pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.85
- MetaLR 1.00
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: CADASIL. (PMID 20301673)