R15P (p.Arg15Pro) variant of DES (Desmin)
R15P (p.Arg15Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- TOPMed rs962731426
- gnomAD rs962731426
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available