M1V (p.Met1Val) variant of SMAD3 (SMAD family member 3)
M1V (p.Met1Val) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1555405092
- ClinGen CA393202666
- ClinVar RCV001526579
- ClinVar RCV006467638
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- MetaLR 0.71
- MetaSVM 0.18
- PolyPhen-2 0.00
- SIFT 0.35
- MutPred 0.99
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)