G24C (p.Gly24Cys) variant of KCNH2 (hERG)
G24C (p.Gly24Cys) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements and structural context.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- TOPMed rs1802015908
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- ESM-1b 1.00
- AlphaMissense 0.80
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 85.1