E44K (p.Glu44Lys) variant of KCNE2 (Q9Y6J6)
E44K (p.Glu44Lys) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- TOPMed rs953273203
- gnomAD rs953273203
- Uncertain significance
- Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.84
- MetaSVM 0.85
- CADD 29.20
- ClinVar: Uncertain significance (Long QT syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available