F14Y (p.Phe14Tyr) variant of KCNH2 (hERG)
F14Y (p.Phe14Tyr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes experimental measurements, published literature, and structural context.
F14Y (p.Phe14Tyr) variant details
- p.Phe14Tyr
- rs2486167283
- ClinGen CA369866709
- ClinVar RCV003049327
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- ESM-1b 0.00
- AlphaMissense 0.56
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 82.5
- 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)