C570R (p.Cys570Arg) variant of FBN1 (Fibrillin-1)
C570R (p.Cys570Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Marfan syndrome. The record also includes variant effect predictions and published literature.
C570R (p.Cys570Arg) variant details
- p.Cys570Arg
- rs113902534
- ClinGen CA269554328
- ClinVar RCV001229193
- ClinVar RCV002283533
- Pathogenic
- Marfan syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic (Marfan syndrome)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)