Q23K (p.Gln23Lys) variant of SMAD3 (SMAD family member 3)
Q23K (p.Gln23Lys) 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 Familial thoracic aortic aneurysm and aortic dissection. The record also includes structural context.
Q23K (p.Gln23Lys) variant details
- p.Gln23Lys
- Ensembl rs2140188838
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available