C541Y (p.Cys541Tyr) variant of FBN1 (Fibrillin-1)
C541Y (p.Cys541Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes variant effect predictions and published literature.
C541Y (p.Cys541Tyr) variant details
- p.Cys541Tyr
- rs1555400064
- ClinGen CA392341267
- ClinVar RCV001208494
- ClinVar RCV002246019
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76… (PMID 16220557)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)