R591L (p.Arg591Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R591L (p.Arg591Leu) 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; not provided; Long QT syndrome 1. 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.
R591L (p.Arg591Leu) variant details
- p.Arg591Leu
- rs199472814
- ClinGen CA006375
- ClinVar RCV000182226
- ClinVar RCV003319330
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; not provided; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.90
- CADD 30.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; not provided; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)