L17Q (p.Leu17Gln) variant of TGFBR1 (TGF-beta receptor type-1)
L17Q (p.Leu17Gln) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- rs2118164469
- ClinGen CA374223588
- ClinVar RCV002278080
- ClinVar RCV004673657
- Uncertain significance
- Ehlers-Danlos syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.29
- MetaLR 0.42
- MetaSVM -0.56
- PolyPhen-2 0.94
- SIFT 0.08
- MutPred 0.54
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)