S41R (p.Ser41Arg) variant of DYSF (Dysferlin)
S41R (p.Ser41Arg) 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.
S41R (p.Ser41Arg) variant details
- p.Ser41Arg
- cosmic curated COSV50450
- ESP rs369755508
- ExAC rs369755508
- TOPMed rs369755508
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available