G119R (p.Gly119Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G119R (p.Gly119Arg) 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 1; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G119R (p.Gly119Arg) variant details
- p.Gly119Arg
- rs1325525794
- ClinGen CA379117657
- ClinVar RCV000678948
- ClinVar RCV000692678
- Conflicting interpretations
- Long QT syndrome 1; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.10
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome 1; Cardiovascular phenotype; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)