E115K (p.Glu115Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
E115K (p.Glu115Lys) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E115K (p.Glu115Lys) variant details
- p.Glu115Lys
- rs794728553
- ClinGen CA006828
- ClinVar RCV000182261
- ClinVar RCV002517777
- Conflicting interpretations
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- CADD 26.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome)
- EBI: Likely pathogenic (in LQT1)
- UniProt: Likely pathogenic (in LQT1)
- 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)