C67R (p.Cys67Arg) variant of FBN1 (Fibrillin-1)
C67R (p.Cys67Arg) 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. The record also includes variant effect predictions and published literature.
C67R (p.Cys67Arg) variant details
- p.Cys67Arg
- rs2140737496
- ClinGen CA392448448
- ClinVar RCV001917113
- ClinVar RCV002422956
- Likely pathogenic
- Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.99
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Marfan syndrome)
- 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)