R73C (p.Arg73Cys) variant of KCNH2 (hERG)
R73C (p.Arg73Cys) 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 0.61 / 1. The record also includes experimental measurements and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- ExAC rs767343755
- gnomAD rs767343755
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- ESM-1b 1.00
- AlphaMissense 0.14
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 138