E53* (p.Glu53Ter) variant of SLC12A1 (Q13621)
E53* (p.Glu53Ter) in SLC12A1 (Q13621) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available