G325R (p.Gly325Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G325R (p.Gly325Arg) 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 in the context of not provided; Long QT syndrome; Long QT syndrome 1. 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.
G325R (p.Gly325Arg) variant details
- p.Gly325Arg
- rs199472756
- ClinGen CA379133027
- ClinVar RCV000817822
- UniProt VAR 001536
- Pathogenic
- not provided; Long QT syndrome; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.00
- ClinVar: Pathogenic (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: 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)