R10G (p.Arg10Gly) variant of DES (Desmin)
R10G (p.Arg10Gly) in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- TOPMed rs1196125127
- gnomAD rs1196125127
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available