E48* (p.Glu48Ter) variant of SLC8A1 (Sodium/calcium exchanger 1)
E48* (p.Glu48Ter) in SLC8A1 (Sodium/calcium exchanger 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- NCI-TCGA Cosmic COSV6048
- cosmic curated COSV60481
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available