C557W (p.Cys557Trp) variant of FBN1 (Fibrillin-1)
C557W (p.Cys557Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
C557W (p.Cys557Trp) variant details
- p.Cys557Trp
- rs2141323336
- ClinGen CA392341043
- ClinVar RCV002007819
- ClinVar RCV005565077
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- 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)