V11EfsX24 variant of LBR (Delta(14)-sterol reductase LBR)
V11EfsX24 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.
V11EfsX24 variant details
- rs863223326
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available