Q25P (p.Gln25Pro) variant of KCNH2 (hERG)
Q25P (p.Gln25Pro) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q25P (p.Gln25Pro) variant details
- p.Gln25Pro
- gnomAD rs1325360828
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.94
- MetaSVM 0.97
- CADD 26.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.3e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 88.3