R366W (p.Arg366Trp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R366W (p.Arg366Trp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R366W (p.Arg366Trp) variant details
- p.Arg366Trp
- rs199473411
- ClinGen CA005255
- ClinVar RCV000045959
- ClinVar RCV000057551
- Likely pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- CADD 25.90
- ClinVar: Likely pathogenic (Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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: Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations. (PMID 16556865)