I14M (p.Ile14Met) variant of TGFBR2 (TGF-beta receptor type-2)
I14M (p.Ile14Met) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
I14M (p.Ile14Met) variant details
- p.Ile14Met
- rs1697933283
- ClinGen CA351830536
- ClinVar RCV001767811
- ClinVar RCV003528327
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.11
- MetaLR 0.41
- MetaSVM -0.53
- PolyPhen-2 0.26
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)