R243H (p.Arg243His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R243H (p.Arg243His) 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; Long QT syndrome; Jervell and Lange-Nielsen syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R243H (p.Arg243His) variant details
- p.Arg243His
- rs120074196
- ClinGen CA008018
- cosmic curated COSV50108
- ClinVar RCV000057742
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Long QT syndrome; Jervell and Lange-Nielsen syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.30
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Long QT syndrome; Jervell and Lange-Nielsen)
- EBI: Pathogenic (in JLNS1)
- UniProt: Pathogenic (in JLNS1)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. (PMID 10090886)
- Cited in: Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. (PMID 10728423)