R539W (p.Arg539Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R539W (p.Arg539Trp) 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; Long QT syndrome 1; Short QT syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R539W (p.Arg539Trp) variant details
- p.Arg539Trp
- rs199472795
- ClinGen CA005994
- ClinVar RCV000046006
- ClinVar RCV000057604
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome 1; Short QT syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome 1; Short QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. (PMID 10728423)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)