C49Y (p.Cys49Tyr) variant of NOTCH3 (Q9UM47)
C49Y (p.Cys49Tyr) 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 0.97 / 1. The record also includes published literature and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- rs193921045
- ClinGen CA404483407
- ClinVar RCV000518559
- ClinVar RCV005901138
- Pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.88
- MetaLR 1.00
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- 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)