G30R (p.Gly30Arg) variant of AQP5 (Aquaporin-5)
G30R (p.Gly30Arg) in AQP5 (Aquaporin-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- TOPMed rs139623970
- gnomAD rs139623970
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available