E17* (p.Glu17Ter) variant of KCNQ2 (O43526)
E17* (p.Glu17Ter) in KCNQ2 (O43526) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- rs2145922320
- ClinGen CA409636086
- ClinVar RCV002221973
- ClinVar RCV006470235
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)