F60I (p.Phe60Ile) variant of KCNE2 (Q9Y6J6)
F60I (p.Phe60Ile) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 4; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F60I (p.Phe60Ile) variant details
- p.Phe60Ile
- rs16991654
- ClinGen CA10013421
- ClinVar RCV001142017
- ClinVar RCV001142018
- Uncertain significance
- Atrial fibrillation, familial, 4; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.70
- MetaLR 0.90
- MetaSVM 1.00
- CADD 28.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 4; Long QT syndrome 6)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)