M1I (p.Met1Ile) variant of SMAD4 (SMAD family member 4)
M1I (p.Met1Ile) 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. The record also includes variant effect predictions, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs973470216
- ClinGen CA300080946
- ClinVar RCV001204996
- ClinGen CA402457192
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- MetaLR 0.79
- MetaSVM 0.03
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.51
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- 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)