T9A (p.Thr9Ala) variant of SMAD4 (SMAD family member 4)
T9A (p.Thr9Ala) 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 0.45 / 1. The record also includes published literature and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- rs2144400315
- ClinGen CA402457267
- ClinVar RCV001995772
- ClinVar RCV002425375
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.76
- MetaSVM 0.33
- CADD 22.10
- 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)