R231C (p.Arg231Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R231C (p.Arg231Cys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R231C (p.Arg231Cys) variant details
- p.Arg231Cys
- rs199473457
- ClinGen CA007919
- ClinVar RCV000057733
- ClinVar RCV000182100
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- CADD 29.60
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)