M425I (p.Met425Ile) variant of TGFBR2 (TGF-beta receptor type-2)
M425I (p.Met425Ile) 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 Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M425I (p.Met425Ile) variant details
- p.Met425Ile
- rs1699391960
- Ensembl rs1699391960
- ClinGen CA351808909
- ClinVar RCV002371475
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection)
- 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)