R14P (p.Arg14Pro) variant of SMAD3 (SMAD family member 3)
R14P (p.Arg14Pro) 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 0.68 / 1. The record also includes published literature and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- rs1321080616
- ClinGen CA393202750
- ClinVar RCV003876482
- ClinVar RCV005402105
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- 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)