K557R (p.Lys557Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K557R (p.Lys557Arg) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K557R (p.Lys557Arg) variant details
- p.Lys557Arg
- rs2494139093
- ClinGen CA379139219
- ClinVar RCV003360856
- ClinVar RCV004808480
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)