V331I (p.Val331Ile) variant of SMAD3 (SMAD family member 3)
V331I (p.Val331Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V331I (p.Val331Ile) variant details
- p.Val331Ile
- rs1320208623
- ClinGen CA392957298
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59280
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.77
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.12
- CADD 24.70
- PolyPhen-2 0.49
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)