R555H (p.Arg555His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R555H (p.Arg555His) 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 Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R555H (p.Arg555His) variant details
- p.Arg555His
- rs199472800
- ClinGen CA006147
- ClinVar RCV000046012
- ClinVar RCV000057614
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)