C80Y (p.Cys80Tyr) variant of FBN1 (Fibrillin-1)
C80Y (p.Cys80Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MFS. The record also includes variant effect predictions and published literature.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- rs397515767
- ClinGen CA012984
- ClinVar RCV000035136
- ClinVar RCV001852706
- Pathogenic
- in MFS
- Missense
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.99
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- 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)