Y470D (p.Tyr470Asp) variant of TGFBR2 (TGF-beta receptor type-2)
Y470D (p.Tyr470Asp) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.87 / 1. The record also includes published literature and structural context.
Y470D (p.Tyr470Asp) variant details
- p.Tyr470Asp
- rs863224935
- ClinGen CA321611
- cosmic curated COSV55452
- ClinVar RCV000197170
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.96
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)