R76X variant of LBR (Delta(14)-sterol reductase LBR)
R76X in LBR (Delta(14)-sterol reductase LBR) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R76X variant details
- rs869312905
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available