F234L (p.Phe234Leu) variant of TGFBR1 (TGF-beta receptor type-1)
F234L (p.Phe234Leu) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F234L (p.Phe234Leu) variant details
- p.Phe234Leu
- rs1060502046
- ClinGen CA16612911
- ClinVar RCV000473430
- ClinVar RCV001174650
- Pathogenic/Likely pathogenic
- Familial aortopathy; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.79
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial aortopathy; Familial thoracic aortic aneurysm and aorti)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)