S2* (p.Ser2Ter) variant of SMAD3 (SMAD family member 3)
S2* (p.Ser2Ter) in SMAD3 (SMAD family member 3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- rs1006530719
- ClinGen CA393202677
- ClinVar RCV000521242
- ClinVar RCV001218505
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.85
- MetaLR 0.84
- MetaSVM 0.73
- CADD 38.00
- PolyPhen-2 0.95
- SIFT 0.00
- 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)