R591C (p.Arg591Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R591C (p.Arg591Cys) 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 Cardiac arrhythmia; Long QT syndrome 1; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R591C (p.Arg591Cys) variant details
- p.Arg591Cys
- rs199473483
- ClinGen CA006360
- ClinVar RCV000057635
- ClinVar RCV001841638
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Long QT syndrome 1; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 28.60
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Long QT syndrome 1; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)