C628S (p.Cys628Ser) variant of FBN1 (Fibrillin-1)
C628S (p.Cys628Ser) 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; not provided. The record also includes variant effect predictions and published literature.
C628S (p.Cys628Ser) variant details
- p.Cys628Ser
- rs1555399825
- ClinGen CA392339114
- ClinVar RCV003129241
- ClinVar RCV004245987
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.96
- SIFT 0.00
- MutPred 1.00
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- 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)