Q25H (p.Gln25His) variant of KCNH2 (hERG)
Q25H (p.Gln25His) 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; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q25H (p.Gln25His) variant details
- p.Gln25His
- rs2486167077
- ClinGen CA369866601
- ClinVar RCV003648719
- ClinVar RCV005255768
- Uncertain significance
- Long QT syndrome; not provided; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.66
- CADD 23.80
- PolyPhen-2 0.53
- SIFT 0.07
- ClinVar: Uncertain significance (Long QT syndrome; not provided; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 88.3
- 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)