S80* (p.Ser80Ter) variant of LBR (Delta(14)-sterol reductase LBR)
S80* (p.Ser80Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The record also includes structural context.
S80* (p.Ser80Ter) variant details
- p.Ser80Ter
- cosmic curated COSV55288
- Stop Gained
- Structural context available