I6T (p.Ile6Thr) variant of SMAD4 (SMAD family member 4)
I6T (p.Ile6Thr) 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; Hereditary cancer-predisposing syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- rs1599181007
- ClinGen CA402457233
- ClinVar RCV001013227
- ClinVar RCV002319177
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.45
- PolyPhen-2 0.54
- SIFT 0.12
- MutPred 0.27
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- 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)