G189R (p.Gly189Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G189R (p.Gly189Arg) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available record places it in the context of not provided; Long QT syndrome 1; 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.
G189R (p.Gly189Arg) variant details
- p.Gly189Arg
- rs104894252
- ClinGen CA007480
- cosmic curated COSV50133
- ClinVar RCV000003261
- not provided
- not provided; Long QT syndrome 1; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.07
- CADD 29.40
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. (PMID 10220144)
- Cited in: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. (PMID 8528244)