L374H (p.Leu374His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L374H (p.Leu374His) 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/likely pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. 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.
L374H (p.Leu374His) variant details
- p.Leu374His
- rs199472767
- ClinGen CA005326
- ClinVar RCV000045965
- ClinVar RCV000057558
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)