A15S (p.Ala15Ser) variant of SMAD4 (SMAD family member 4)
A15S (p.Ala15Ser) 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 Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1909566748
- ClinGen CA402457349
- ClinVar RCV003764360
- ClinVar RCV006292460
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial thoracic aorti)
- 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)