E22* (p.Glu22Ter) variant of USH1C (Harmonin)
E22* (p.Glu22Ter) in USH1C (Harmonin) is a protein-truncating change. The record also includes experimental measurements and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- cosmic curated COSV99140
- Stop Gained
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.254