C1470Y (p.Cys1470Tyr) variant of FBN1 (Fibrillin-1)
C1470Y (p.Cys1470Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome. The record also includes variant effect predictions and published literature.
C1470Y (p.Cys1470Tyr) variant details
- p.Cys1470Tyr
- rs2043365537
- ClinGen CA392354488
- ClinVar RCV001799126
- ClinVar RCV002246034
- Pathogenic
- Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Marfan syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)