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 record also includes experimental measurements and structural context.
R73C (p.Arg73Cys) variant details
- p.Arg73Cys
- ExAC rs767343755
- gnomAD rs767343755
- Uncertain significance
- Cardiac arrhythmia
- Missense
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 138