I11L (p.Ile11Leu) variant of TGFB2 (P61812)
I11L (p.Ile11Leu) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes published literature and structural context.
I11L (p.Ile11Leu) variant details
- p.Ile11Leu
- rs2464548298
- ClinGen CA344725131
- ClinVar RCV004312644
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- 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)