R243S (p.Arg243Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R243S (p.Arg243Ser) 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 Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R243S (p.Arg243Ser) variant details
- p.Arg243Ser
- rs199472713
- ClinGen CA008003
- ClinVar RCV000057740
- ClinVar RCV000631706
- Pathogenic/Likely pathogenic
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.00
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- 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)