I18M (p.Ile18Met) variant of KCNH2 (hERG)
I18M (p.Ile18Met) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, 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 0.82 / 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 0.822
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.11
- CADD 26.90
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 80.3