K13R (p.Lys13Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
K13R (p.Lys13Arg) 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 Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs1060500622
- ClinGen CA16613505
- ClinVar RCV000464010
- TOPMed rs1060500622
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.89
- MetaSVM 0.70
- CADD 18.90
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)