T9I (p.Thr9Ile) variant of SMAD4 (SMAD family member 4)
T9I (p.Thr9Ile) 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 Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs1555684986
- ClinGen CA402457275
- ClinVar RCV002231712
- ClinVar RCV003584649
- Uncertain significance
- Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.15
- MetaLR 0.81
- MetaSVM 0.67
- PolyPhen-2 0.54
- SIFT 0.03
- EVE 0.16
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Familial thoracic aortic aneurysm a)
- 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)