Q25P (p.Gln25Pro) variant of KCNH2 (hERG)
Q25P (p.Gln25Pro) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q25P (p.Gln25Pro) variant details
- p.Gln25Pro
- gnomAD rs1325360828
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.77
- CADD 24.80
- PolyPhen-2 0.48
- SIFT 0.06
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.5)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 88.3