M434V (p.Met434Val) variant of TGFBR2 (TGF-beta receptor type-2)
M434V (p.Met434Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The record also includes structural context.
M434V (p.Met434Val) variant details
- p.Met434Val
- TOPMed rs1355658397
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Structural context available