A15S (p.Ala15Ser) variant of SMAD4 (SMAD family member 4)
A15S (p.Ala15Ser) 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 Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1909566748
- ClinGen CA402457349
- ClinVar RCV003764360
- ClinVar RCV006292460
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.60
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- 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)