A1728P (p.Ala1728Pro) variant of FBN1 (Fibrillin-1)
A1728P (p.Ala1728Pro) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect. The record also includes variant effect predictions and published literature.
A1728P (p.Ala1728Pro) variant details
- p.Ala1728Pro
- rs387906624
- ClinGen CA392349123
- ClinVar RCV001967543
- Ensembl rs387906624
- Pathogenic
- Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect
- Missense
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in GPHYSD2)
- UniProt: Pathogenic (in GPHYSD2)
- 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)