H26R (p.His26Arg) variant of SMAD4 (SMAD family member 4)
H26R (p.His26Arg) 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 0.51 / 1. The record also includes published literature and structural context.
H26R (p.His26Arg) variant details
- p.His26Arg
- rs2144400741
- ClinGen CA402457523
- ClinVar RCV002409895
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.92
- MetaLR 0.36
- MetaSVM -0.40
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.70
- 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)