H315Y (p.His315Tyr) variant of TGFBR1 (TGF-beta receptor type-1)
H315Y (p.His315Tyr) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
H315Y (p.His315Tyr) variant details
- p.His315Tyr
- rs2118780524
- ClinGen CA374230780
- ClinVar RCV001379085
- ClinVar RCV004594277
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely pathogenic
- UniProt: Likely 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)