M1V (p.Met1Val) variant of TGFBR2 (TGF-beta receptor type-2)
M1V (p.Met1Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele 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 0.56 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs933114782
- ClinGen CA72289962
- ClinVar RCV001179694
- ClinVar RCV002483977
- Uncertain significance/Uncertain risk allele
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- MetaLR 0.61
- MetaSVM 0.20
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance/Uncertain risk allele (Diabetic retinopathy; Malignant tumor of esophagus; Colorectal c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)