D16H (p.Asp16His) variant of KCNH2 (hERG)
D16H (p.Asp16His) 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 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- rs770772057
- ClinGen CA369866694
- ClinVar RCV003234472
- ClinVar RCV004009686
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.11
- CADD 27.60
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Population evidence available
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 98.8
- 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)