S2W (p.Ser2Trp) variant of SMAD3 (SMAD family member 3)
S2W (p.Ser2Trp) 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 Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- rs1006530719
- ClinGen CA272431420
- ClinVar RCV003172510
- ClinVar RCV004801327
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.85
- MetaLR 0.84
- MetaSVM 0.73
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- 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)