R73H (p.Arg73His) variant of KCNH2 (hERG)
R73H (p.Arg73His) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R73H (p.Arg73His) variant details
- p.Arg73His
- TOPMed rs1456508280
- gnomAD rs1456508280
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.47
- ESM-1b 0.04
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.83
- CADD 23.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 138