R34I (p.Arg34Ile) variant of DYSF (Dysferlin)
R34I (p.Arg34Ile) in DYSF (Dysferlin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes population frequency data and structural context.
R34I (p.Arg34Ile) variant details
- p.Arg34Ile
- NCI-TCGA TCGA novel
- TOPMed rs2082827571
- gnomAD rs2082827571
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available