E284Q (p.Glu284Gln) variant of SMAD3 (SMAD family member 3)
E284Q (p.Glu284Gln) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E284Q (p.Glu284Gln) variant details
- p.Glu284Gln
- rs886038991
- ClinGen CA10587877
- ClinVar RCV002310931
- ClinVar RCV003317176
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- 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)