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 available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- cosmic curated COSV11523
- Ensembl rs2144400683
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available