C596Y (p.Cys596Tyr) variant of FBN1 (Fibrillin-1)
C596Y (p.Cys596Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MFS. The record also includes variant effect predictions and published literature.
C596Y (p.Cys596Tyr) variant details
- p.Cys596Tyr
- rs2043732180
- ClinGen CA392340332
- ClinVar RCV001170320
- ClinVar RCV001387012
- Pathogenic
- in MFS
- Missense
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.65
- SIFT 0.00
- MutPred 0.99
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. (PMID 12203992)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)