G48R (p.Gly48Arg) variant of FHL1 (Q13642)
G48R (p.Gly48Arg) in FHL1 (Q13642) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- TOPMed rs1467233713
- gnomAD rs1467233713
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.501