I19F (p.Ile19Phe) variant of KCNH2 (hERG)
I19F (p.Ile19Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- rs1554431444
- ClinGen CA369866667
- ClinVar RCV000631726
- Ensembl rs1554431444
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.03
- PolyPhen-2 0.40
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- 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)