D524Y (p.Asp524Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
D524Y (p.Asp524Tyr) 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 not specified; 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 population frequency data, published literature, and structural context.
D524Y (p.Asp524Tyr) variant details
- p.Asp524Tyr
- rs727504421
- ClinGen CA020717
- NCI-TCGA Cosmic COSV5544
- NCI-TCGA Cosmic COSV5545
- Uncertain significance
- not specified; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.91
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified; Familial thoracic aortic aneurysm and aortic diss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)