R243C (p.Arg243Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R243C (p.Arg243Cys) 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 Long QT syndrome; Cardiac arrhythmia; not provided. 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.
R243C (p.Arg243Cys) variant details
- p.Arg243Cys
- rs199472713
- ClinGen CA008011
- NCI-TCGA Cosmic COSV5011
- cosmic curated COSV50117
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- CADD 28.50
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiac arrhythmia; not provided)
- 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: Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction… (PMID 10409658)
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)