R259L (p.Arg259Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R259L (p.Arg259Leu) 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; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R259L (p.Arg259Leu) variant details
- p.Arg259Leu
- rs199472720
- ClinGen CA008191
- ClinVar RCV000057757
- ClinVar RCV000182114
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.70
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- 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)