Q367R (p.Gln367Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
Q367R (p.Gln367Arg) 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 not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q367R (p.Gln367Arg) variant details
- p.Gln367Arg
- rs2133754743
- ClinGen CA379133871
- ClinVar RCV001593559
- ClinVar RCV003533013
- Conflicting interpretations
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 0.87
- CADD 20.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)