S5C (p.Ser5Cys) variant of SMAD4 (SMAD family member 4)
S5C (p.Ser5Cys) 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 Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- rs2144400216
- ClinGen CA402457221
- cosmic curated COSV61688
- ClinVar RCV002389893
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.24
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- 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)