W15C (p.Trp15Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W15C (p.Trp15Cys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W15C (p.Trp15Cys) variant details
- p.Trp15Cys
- rs2133559405
- ClinGen CA379115869
- ClinVar RCV002029920
- ClinVar RCV004038739
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.87
- MetaSVM 0.45
- CADD 20.90
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)