K32M (p.Lys32Met) variant of DYSF (Dysferlin)
K32M (p.Lys32Met) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes population frequency data and structural context.
K32M (p.Lys32Met) variant details
- p.Lys32Met
- 1000Genomes rs539484245
- ExAC rs539484245
- TOPMed rs539484245
- gnomAD rs539484245
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available