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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes 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
- Variant Prioritization Score for Impact Estimate 0.651
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.79
- MetaSVM 0.03
- CADD 23.20
- PolyPhen-2 0.00
- 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)