E86* (p.Glu86Ter) variant of KCNQ2 (O43526)
E86* (p.Glu86Ter) in KCNQ2 (O43526) 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 0.82 / 1. The record also includes population frequency data and structural context.
E86* (p.Glu86Ter) variant details
- p.Glu86Ter
- cosmic curated COSV10741
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available