I18M (p.Ile18Met) variant of KCNH2 (hERG)
I18M (p.Ile18Met) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- ExAC rs772587513
- gnomAD rs772587513
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 0.59
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 80.3