S566Y (p.Ser566Tyr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S566Y (p.Ser566Tyr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S566Y (p.Ser566Tyr) variant details
- p.Ser566Tyr
- rs199472804
- ClinGen CA006206
- ClinVar RCV000046014
- ClinVar RCV000057618
- Pathogenic/Likely pathogenic
- not provided; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.98
- MetaSVM 1.02
- CADD 27.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiac arrhythmia; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)