C628Y (p.Cys628Tyr) variant of FBN1 (Fibrillin-1)
C628Y (p.Cys628Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr. The record also includes variant effect predictions and published literature.
C628Y (p.Cys628Tyr) variant details
- p.Cys628Tyr
- rs1555399825
- ClinGen CA392339113
- ClinVar RCV001377266
- ClinVar RCV002254964
- Pathogenic/Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.96
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- 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)