G57R (p.Gly57Arg) variant of FBN2 (Fibrillin-2)
G57R (p.Gly57Arg) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- Ensembl rs2112810796
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available