C68F (p.Cys68Phe) variant of FBN1 (Fibrillin-1)
C68F (p.Cys68Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ECTOL1. The record also includes variant effect predictions and published literature.
C68F (p.Cys68Phe) variant details
- p.Cys68Phe
- rs1597633163
- ClinGen CA392448429
- ClinVar RCV001044191
- Ensembl rs1597633163
- Pathogenic
- in ECTOL1
- Missense
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.51
- SIFT 0.00
- MutPred 0.62
- EBI: Pathogenic (in ECTOL1)
- UniProt: Pathogenic (in ECTOL1)
- 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)