A34T (p.Ala34Thr) variant of SMAD3 (SMAD family member 3)
A34T (p.Ala34Thr) 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; Aneurysm-osteoarthritis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs2140188906
- ClinGen CA393202888
- ClinVar RCV001809158
- ClinVar RCV001869596
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aneurysm-osteoarthritis
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.50
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aneurys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)