R460L (p.Arg460Leu) variant of TGFBR2 (TGF-beta receptor type-2)
R460L (p.Arg460Leu) 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 Loeys-Dietz syndrome 2; not provided; Familial thoracic aortic aneurysm and aort. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R460L (p.Arg460Leu) variant details
- p.Arg460Leu
- rs104893816
- ClinGen CA351809138
- cosmic curated COSV55442
- ClinVar RCV000654802
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome 2; not provided; Familial thoracic aortic aneurysm and aort
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome 2; not provided; Familial thoracic aortic a)
- 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)