R26G (p.Arg26Gly) variant of OTOF (Otoferlin)
R26G (p.Arg26Gly) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- ESP rs145208539
- ExAC rs145208539
- TOPMed rs145208539
- gnomAD rs145208539
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available