R594Q (p.Arg594Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R594Q (p.Arg594Gln) 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 Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R594Q (p.Arg594Gln) variant details
- p.Arg594Gln
- rs199472815
- ClinGen CA006388
- ClinVar RCV000046031
- ClinVar RCV000057637
- Pathogenic/Likely pathogenic
- Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.98
- MetaSVM 1.01
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell an)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)