A531T (p.Ala531Thr) variant of TGFBR2 (TGF-beta receptor type-2)
A531T (p.Ala531Thr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; T. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A531T (p.Ala531Thr) variant details
- p.Ala531Thr
- rs727503477
- ClinGen CA020734
- ClinVar RCV000152013
- ClinVar RCV002399532
- Conflicting interpretations
- Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aort)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)