D26Y (p.Asp26Tyr) variant of ACTA2 (Actin, aortic smooth muscle)
D26Y (p.Asp26Tyr) 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 Familial thoracic aortic aneurysm and aortic dissection. The record also includes structural context.
D26Y (p.Asp26Tyr) variant details
- p.Asp26Tyr
- NCI-TCGA Cosmic COSV5651
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Structural context available