V15M (p.Val15Met) variant of FBN1 (Fibrillin-1)
V15M (p.Val15Met) in FBN1 (Fibrillin-1) 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; Marfan syndrome. The record also includes variant effect predictions and published literature.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs1890262474
- ClinGen CA392453883
- ClinVar RCV001225599
- Ensembl rs1890262474
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- AlphaMissense 0.15
- MetaLR 0.46
- MetaSVM -0.41
- SIFT 0.03
- MutPred 0.44
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)