C39G (p.Cys39Gly) variant of KCNH2 (hERG)
C39G (p.Cys39Gly) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes experimental measurements and structural context.
C39G (p.Cys39Gly) variant details
- p.Cys39Gly
- ExAC rs757491162
- TOPMed rs757491162
- gnomAD rs757491162
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 130