A26T (p.Ala26Thr) variant of TGFBR1 (TGF-beta receptor type-1)
A26T (p.Ala26Thr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs1295281826
- ClinGen CA374223829
- ClinVar RCV004519066
- TOPMed rs1295281826
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.16
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Likely benign (in allele TGFBR1*10A)
- UniProt: Likely benign (in allele TGFBR1*10A)
- Most common in the African/African-American population (allele frequency 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)