A15V (p.Ala15Val) variant of SMAD4 (SMAD family member 4)
A15V (p.Ala15Val) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs2144400485
- ClinGen CA402457354
- cosmic curated COSV61684
- ClinVar RCV002975984
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.10
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)