T73I (p.Thr73Ile) variant of FBN1 (Fibrillin-1)
T73I (p.Thr73Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and published literature.
T73I (p.Thr73Ile) variant details
- p.Thr73Ile
- rs2044668949
- ClinGen CA392448320
- ClinVar RCV001183796
- Ensembl rs2044668949
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- AlphaMissense 0.90
- MetaLR 0.70
- MetaSVM 0.42
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)