F60L (p.Phe60Leu) variant of KCNE2 (Q9Y6J6)
F60L (p.Phe60Leu) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 3/6, digenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- rs16991654
- ClinGen CA117926
- ClinVar RCV000006428
- ClinVar RCV000058363
- Pathogenic
- Long QT syndrome 3/6, digenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.94
- ESM-1b 0.00
- AlphaMissense 0.90
- MetaLR 0.88
- MetaSVM 0.95
- CADD 28.70
- ClinVar: Pathogenic (Long QT syndrome 3/6, digenic)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)
- Cited in: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PMID 10219239)