A112T (p.Ala112Thr) variant of SMAD3 (SMAD family member 3)
A112T (p.Ala112Thr) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection; Aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- rs770798158
- ClinGen CA062122
- cosmic curated COSV10589
- ClinVar RCV001090840
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.74
- CADD 27.60
- PolyPhen-2 0.60
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance (in LDS3)
- UniProt: Uncertain significance (in LDS3)
- Most common in the South Asian population (allele frequency 4.6e-05)
- 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)