E26K (p.Glu26Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E26K (p.Glu26Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- TOPMed rs1687767912
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available