E53D (p.Glu53Asp) variant of MYH11 (Myosin-11)
E53D (p.Glu53Asp) in MYH11 (Myosin-11) 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.
E53D (p.Glu53Asp) variant details
- p.Glu53Asp
- cosmic curated COSV55548
- 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