E33* (p.Glu33Ter) variant of COL1A1 (Collagen alpha-1(I) chain)
E33* (p.Glu33Ter) in COL1A1 (Collagen alpha-1(I) chain) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- NCI-TCGA Cosmic COSV9986
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available