I42F (p.Ile42Phe) variant of KCNH2 (hERG)
I42F (p.Ile42Phe) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome 2; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
I42F (p.Ile42Phe) variant details
- p.Ile42Phe
- rs1801940339
- ClinVar RCV004556941
- ClinVar RCV005100831
- Conflicting interpretations
- Long QT syndrome 2; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.88
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.01
- SIFT 0.09
- MutPred 0.68
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome 2; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)