C102Y (p.Cys102Tyr) variant of FBN1 (Fibrillin-1)
C102Y (p.Cys102Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
C102Y (p.Cys102Tyr) variant details
- p.Cys102Tyr
- rs794728292
- ClinGen CA392446961
- ClinVar RCV002251698
- ClinVar RCV006553152
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- 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)