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 0.53 / 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 0.535
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 138