C94Y (p.Cys94Tyr) variant of FBN1 (Fibrillin-1)
C94Y (p.Cys94Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
C94Y (p.Cys94Tyr) variant details
- p.Cys94Tyr
- rs730880098
- ClinGen CA392447037
- ClinVar RCV003783679
- ClinVar RCV006605412
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.93
- SIFT 0.00
- MutPred 0.75
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- 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)