L305R (p.Leu305Arg) variant of TGFBR2 (TGF-beta receptor type-2)
L305R (p.Leu305Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
L305R (p.Leu305Arg) variant details
- p.Leu305Arg
- rs1553630174
- ClinGen CA351808159
- ClinVar RCV000540262
- ClinVar RCV001538284
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- AlphaMissense 1.00
- MetaLR 0.50
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic
- UniProt: 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)