R45G (p.Arg45Gly) variant of FBN1 (Fibrillin-1)
R45G (p.Arg45Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- rs1597652333
- ClinGen CA392453540
- ClinVar RCV000788324
- ClinVar RCV003528232
- Uncertain significance
- Missense
- REVEL 0.54
- MetaLR 0.64
- MetaSVM 0.24
- CADD 27.00
- PolyPhen-2 0.88
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)