E48* (p.Glu48Ter) variant of CLCNKB (Chloride channel protein ClC-Kb)
E48* (p.Glu48Ter) in CLCNKB (Chloride channel protein ClC-Kb) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10099
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 43.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available