I19M (p.Ile19Met) variant of SMAD4 (SMAD family member 4)
I19M (p.Ile19Met) 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 0.60 / 1. The record also includes published literature and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- rs754401427
- ClinGen CA402457421
- ClinVar RCV002359882
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM 0.00
- CADD 24.60
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)