H21R (p.His21Arg) variant of SMAD4 (SMAD family member 4)
H21R (p.His21Arg) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H21R (p.His21Arg) variant details
- p.His21Arg
- rs1280706054
- ClinGen CA402457444
- ClinVar RCV002311919
- ClinVar RCV002528944
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM -0.15
- CADD 26.70
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)