E10* (p.Glu10Ter) variant of LBR (Delta(14)-sterol reductase LBR)
E10* (p.Glu10Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The record also includes structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- cosmic curated COSV55290
- Stop Gained
- Structural context available