T9P (p.Thr9Pro) variant of SMAD4 (SMAD family member 4)
T9P (p.Thr9Pro) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T9P (p.Thr9Pro) variant details
- p.Thr9Pro
- rs2144400315
- ClinGen CA402457265
- ClinVar RCV002426217
- Ensembl rs2144400315
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.39
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.33
- CADD 21.70
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)