I19V (p.Ile19Val) variant of SMAD4 (SMAD family member 4)
I19V (p.Ile19Val) 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 0.50 / 1. The record also includes published literature and structural context.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- rs1568202964
- ClinGen CA402457410
- ClinVar RCV000774816
- ClinVar RCV001873150
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.52
- MetaSVM 0.09
- CADD 28.00
- 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)