C59Y (p.Cys59Tyr) variant of FBN1 (Fibrillin-1)
C59Y (p.Cys59Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and published literature.
C59Y (p.Cys59Tyr) variant details
- p.Cys59Tyr
- rs1555405673
- ClinGen CA392448510
- ClinVar RCV000770681
- ClinVar RCV005213391
- Likely pathogenic
- Missense
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.84
- EBI: Likely pathogenic
- UniProt: Likely 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)