R562M (p.Arg562Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R562M (p.Arg562Met) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R562M (p.Arg562Met) variant details
- p.Arg562Met
- rs199472802
- ClinGen CA006176
- ClinVar RCV000057616
- ClinVar RCV002513747
- Conflicting interpretations
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- CADD 36.00
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)