R562S (p.Arg562Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R562S (p.Arg562Ser) 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; Long QT syndrome; Atrial fibrillation, familial, 3. 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.
R562S (p.Arg562Ser) variant details
- p.Arg562Ser
- rs794728535
- ClinGen CA379139263
- ClinVar RCV002414583
- ClinVar RCV005097681
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome; Atrial fibrillation, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome; Atrial fibrillation,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)