G179S (p.Gly179Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G179S (p.Gly179Ser) 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 Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G179S (p.Gly179Ser) variant details
- p.Gly179Ser
- rs199473394
- ClinGen CA007379
- ClinVar RCV000057694
- ClinVar RCV000148544
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.30
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Congenital long QT)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)