L49* (p.Leu49Ter) variant of LBR (Delta(14)-sterol reductase LBR)

L49* (p.Leu49Ter) in LBR (Delta(14)-sterol reductase LBR) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

L49* (p.Leu49Ter) variant details