Y40* (p.Tyr40Ter) variant of NPC1 (O15118)
Y40* (p.Tyr40Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available