M425V (p.Met425Val) variant of TGFBR2 (TGF-beta receptor type-2)
M425V (p.Met425Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M425V (p.Met425Val) variant details
- p.Met425Val
- rs104893817
- ClinGen CA020640
- ClinVar RCV000013342
- ClinVar RCV001325332
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. (PMID 16251899)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)