E13* (p.Glu13Ter) variant of HMBS (Porphobilinogen deaminase)
E13* (p.Glu13Ter) in HMBS (Porphobilinogen deaminase) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- NCI-TCGA Cosmic COSV9959
- cosmic curated COSV99598
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available