C1496Y (p.Cys1496Tyr) variant of NOTCH1 (P46531)
C1496Y (p.Cys1496Tyr) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
C1496Y (p.Cys1496Tyr) variant details
- p.Cys1496Tyr
- rs587781259
- ClinGen CA345933
- ClinVar RCV000144236
- ClinVar RCV005372236
- Pathogenic/Likely pathogenic
- Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.80
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and a)
- EBI: Pathogenic (in AOS5)
- UniProt: Pathogenic (in AOS5)
- Structural context available
- Cited in: Mutations in NOTCH1 cause Adams-Oliver syndrome. (PMID 25132448)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)