R76H (p.Arg76His) variant of KCNH2 (hERG)
R76H (p.Arg76His) 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 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- gnomAD rs868054429
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.97
- MetaSVM 1.14
- CADD 29.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 105