E58* (p.Glu58Ter) variant of PSEN2 (Presenilin-2)
E58* (p.Glu58Ter) in PSEN2 (Presenilin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available