C393Y (p.Cys393Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
C393Y (p.Cys393Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C393Y (p.Cys393Tyr) variant details
- p.Cys393Tyr
- rs886039106
- ClinGen CA10587569
- cosmic curated COSV55463
- ClinVar RCV000253481
- Pathogenic
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Familial thoracic aortic aneurysm and aortic dissection)
- 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)