P68L (p.Pro68Leu) variant of SMAD3 (SMAD family member 3)
P68L (p.Pro68Leu) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d. The record also includes published literature and structural context.
P68L (p.Pro68Leu) variant details
- p.Pro68Leu
- rs2505000205
- ClinGen CA393203121
- ClinVar RCV002828690
- ClinVar RCV003481337
- Uncertain significance
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)