W17* (p.Trp17Ter) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W17* (p.Trp17Ter) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- rs1589884185
- ClinGen CA379115908
- ClinVar RCV000821537
- Ensembl rs1589884185
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- 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)