R91* (p.Arg91Ter) variant of USH2A (Usherin)
R91* (p.Arg91Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R91* (p.Arg91Ter) variant details
- p.Arg91Ter
- rs2527654487
- ClinGen CA344904325
- ClinVar RCV003682548
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available