C2011W (p.Cys2011Trp) variant of FBN1 (Fibrillin-1)
C2011W (p.Cys2011Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Isolated thoracic aortic aneurysm. The record also includes variant effect predictions.
C2011W (p.Cys2011Trp) variant details
- p.Cys2011Trp
- rs769717588
- ClinGen CA392339488
- ClinVar RCV001374842
- ExAC rs769717588
- Likely pathogenic
- Isolated thoracic aortic aneurysm
- Missense
- MutPred 0.86
- ClinVar: Likely pathogenic (Isolated thoracic aortic aneurysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic