R2G (p.Arg2Gly) variant of FBN1 (Fibrillin-1)
R2G (p.Arg2Gly) 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 and published literature.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- rs1597652545
- ClinGen CA392454048
- ClinVar RCV001000800
- ClinVar RCV002337057
- Uncertain significance
- Missense
- AlphaMissense 0.09
- MetaLR 0.30
- MetaSVM -0.72
- SIFT 0.52
- MutPred 0.38
- 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)