R487L (p.Arg487Leu) variant of TGFBR1 (TGF-beta receptor type-1)
R487L (p.Arg487Leu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R487L (p.Arg487Leu) variant details
- p.Arg487Leu
- rs113605875
- ClinGen CA16605939
- ClinVar RCV000417662
- ClinVar RCV006462811
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in LDS1)
- UniProt: Pathogenic (in LDS1)
- 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)