W287R (p.Trp287Arg) variant of TGFBR2 (TGF-beta receptor type-2)
W287R (p.Trp287Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
W287R (p.Trp287Arg) variant details
- p.Trp287Arg
- rs727503472
- cosmic curated COSV55446
- ClinGen CA020788
- ClinVar RCV000152004
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- 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)