A52V (p.Ala52Val) variant of FBN1 (Fibrillin-1)
A52V (p.Ala52Val) 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.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs2140787437
- ClinGen CA2499223018
- ClinVar RCV001559081
- ClinVar RCV003771709
- Uncertain significance
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; not pr
- Missense
- REVEL 0.28
- MetaLR 0.40
- MetaSVM -0.23
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.75
- 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 4.5e-06)
- 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)