C1094Y (p.Cys1094Tyr) variant of NOTCH1 (P46531)
C1094Y (p.Cys1094Tyr) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C1094Y (p.Cys1094Tyr) variant details
- p.Cys1094Tyr
- rs1554728424
- ClinGen CA375551967
- ClinVar RCV000662250
- Ensembl rs1554728424
- Pathogenic
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Adams-Oliver syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. (PMID 27077170)