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 0.68 / 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 0.682
- REVEL 0.76
- CADD 24.60
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Long QT syndrome; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 114