G589D (p.Gly589Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G589D (p.Gly589Asp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G589D (p.Gly589Asp) variant details
- p.Gly589Asp
- rs120074190
- ClinGen CA006347
- ClinVar RCV000003288
- ClinVar RCV000003289
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.50
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Pathogenic (in LQT1 and JLNS1)
- UniProt: Pathogenic (in LQT1 and JLNS1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease… (PMID 11216980)
- Cited in: Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium… (PMID 11799244)