R460G (p.Arg460Gly) variant of TGFBR2 (TGF-beta receptor type-2)
R460G (p.Arg460Gly) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R460G (p.Arg460Gly) variant details
- p.Arg460Gly
- rs104893811
- ClinGen CA351809137
- ClinVar RCV001995183
- ClinVar RCV006448797
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- 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)