C4Y (p.Cys4Tyr) variant of TGFB2 (P61812)
C4Y (p.Cys4Tyr) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C4Y (p.Cys4Tyr) variant details
- p.Cys4Tyr
- rs776628524
- ClinGen CA1398359
- ClinVar RCV001799140
- ClinVar RCV002541316
- Likely benign
- Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Likely benign (Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and ao)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.0005)
- 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)