E80* (p.Glu80Ter) variant of GBA1 (P04062)
E80* (p.Glu80Ter) in GBA1 (P04062) is a protein-truncating change. The record also includes structural context.
E80* (p.Glu80Ter) variant details
- p.Glu80Ter
- cosmic curated COSV10051
- Stop Gained
- Structural context available