Q11L (p.Gln11Leu) variant of KCNH2 (hERG)
Q11L (p.Gln11Leu) 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; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q11L (p.Gln11Leu) variant details
- p.Gln11Leu
- TOPMed rs1156510876
- gnomAD rs1156510876
- Uncertain significance
- Long QT syndrome; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.14
- CADD 26.80
- ClinVar: Uncertain significance (Long QT syndrome; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 114