R366Q (p.Arg366Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R366Q (p.Arg366Gln) 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 Cardiac arrhythmia; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R366Q (p.Arg366Gln) variant details
- p.Arg366Gln
- rs199473410
- ClinGen CA005263
- cosmic curated COSV10584
- ClinVar RCV000057552
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- CADD 29.60
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)