A112V (p.Ala112Val) variant of SMAD3 (SMAD family member 3)
A112V (p.Ala112Val) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
A112V (p.Ala112Val) variant details
- p.Ala112Val
- rs387906854
- ClinGen CA020077
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59280
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.63
- PolyPhen-2 0.45
- SIFT 0.01
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Aneurys)
- EBI: Pathogenic (in LDS3)
- UniProt: Pathogenic (in LDS3)
- Structural context available
- Cited in: Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with… (PMID 21778426)
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)