G168R (p.Gly168Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G168R (p.Gly168Arg) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G168R (p.Gly168Arg) variant details
- p.Gly168Arg
- rs179489
- ClinGen CA007272
- ClinVar RCV000057685
- ClinVar RCV000182077
- not provided
- not provided; Long QT syndrome 1; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)