R259C (p.Arg259Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R259C (p.Arg259Cys) 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; Monogenic hearing loss; Congenital long QT syndrome. 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.
R259C (p.Arg259Cys) variant details
- p.Arg259Cys
- rs199472719
- ClinGen CA008177
- ClinVar RCV000046123
- ClinVar RCV000057755
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Monogenic hearing loss; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.96
- MetaSVM 1.08
- CADD 27.10
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Monogenic hearing loss; Congenital lon)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)