Q75H (p.Gln75His) variant of KCNH2 (hERG)
Q75H (p.Gln75His) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q75H (p.Gln75His) variant details
- p.Gln75His
- TOPMed rs1801933890
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.02
- CADD 24.50
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 44.6