V82I (p.Val82Ile) variant of FBN1 (Fibrillin-1)
V82I (p.Val82Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr. The record also includes variant effect predictions, population frequency data, and published literature.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- rs148007052
- ClinGen CA270060787
- ClinVar RCV003796541
- ClinVar RCV004006038
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.32
- MetaLR 0.60
- MetaSVM 0.02
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)