R174C (p.Arg174Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R174C (p.Arg174Cys) 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 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.
R174C (p.Arg174Cys) variant details
- p.Arg174Cys
- rs199472696
- ClinGen CA007321
- ClinVar RCV000046072
- ClinVar RCV000057689
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 27.80
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)