S546L (p.Ser546Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S546L (p.Ser546Leu) 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 in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S546L (p.Ser546Leu) variant details
- p.Ser546Leu
- rs199473480
- ClinGen CA006028
- cosmic curated COSV10502
- ClinVar RCV000046008
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 27.60
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)