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 available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. 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
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.64