E23* (p.Glu23Ter) variant of KCNH2 (hERG)
E23* (p.Glu23Ter) in KCNH2 (hERG) 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 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- rs1554431441
- ClinGen CA658797054
- ClinVar RCV000631592
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)