L23F (p.Leu23Phe) variant of SMAD4 (SMAD family member 4)
L23F (p.Leu23Phe) in SMAD4 (SMAD family member 4) 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; Hereditary cancer-predi. The record also includes structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- Ensembl rs2144400683
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available