G345E (p.Gly345Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G345E (p.Gly345Glu) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G345E (p.Gly345Glu) variant details
- p.Gly345Glu
- rs120074183
- ClinGen CA005061
- NCI-TCGA Cosmic COSV5010
- ClinVar RCV000003270
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; not provided; Long QT syndrome)
- 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: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID 8528244)