T79I (p.Thr79Ile) variant of ACTA2 (Actin, aortic smooth muscle)
T79I (p.Thr79Ile) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 6. The record also includes structural context.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- Ensembl rs1564647102
- Uncertain significance
- Aortic aneurysm, familial thoracic 6
- Missense
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 6)
- UniProt: Uncertain significance
- Structural context available