R555S (p.Arg555Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R555S (p.Arg555Ser) 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; Congenital long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R555S (p.Arg555Ser) variant details
- p.Arg555Ser
- rs120074185
- ClinGen CA006138
- ClinVar RCV000057612
- ClinVar RCV000479287
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Congenital long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Congenital long QT syndrome; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)