R591H (p.Arg591His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R591H (p.Arg591His) 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; not provided. 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.
R591H (p.Arg591His) variant details
- p.Arg591His
- rs199472814
- ClinGen CA006369
- cosmic curated COSV50134
- ClinVar RCV000057636
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.90
- CADD 31.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. (PMID 10024302)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)