M24I (p.Met24Ile) variant of SMAD4 (SMAD family member 4)
M24I (p.Met24Ile) 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 Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
M24I (p.Met24Ile) variant details
- p.Met24Ile
- rs2144400716
- Ensembl rs2144400716
- ClinGen CA402457492
- ClinVar RCV003585811
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.98
- MetaLR 0.52
- MetaSVM 0.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- 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)