C144F (p.Cys144Phe) variant of NOTCH3 (Q9UM47)
C144F (p.Cys144Phe) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C144F (p.Cys144Phe) variant details
- p.Cys144Phe
- rs1568361985
- ClinGen CA404534100
- ClinVar RCV002466886
- ClinVar RCV003561050
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.96
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 1.50
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Population evidence available
- Structural context available
- Cited in: Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. (PMID 11058919)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)