C461Y (p.Cys461Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
C461Y (p.Cys461Tyr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C461Y (p.Cys461Tyr) variant details
- p.Cys461Tyr
- rs587782979
- ClinGen CA020670
- ClinVar RCV000143955
- ClinVar RCV002283457
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.65
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)