E48* (p.Glu48Ter) variant of LBR (Delta(14)-sterol reductase LBR)
E48* (p.Glu48Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. The record also includes structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- cosmic curated COSV10437
- Stop Gained
- Structural context available