R555C (p.Arg555Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R555C (p.Arg555Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R555C (p.Arg555Cys) variant details
- p.Arg555Cys
- rs120074185
- ClinGen CA006141
- cosmic curated COSV10454
- ClinVar RCV000003274
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- 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)