Q52R (p.Gln52Arg) variant of KCNQ3 (O43525)
Q52R (p.Gln52Arg) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- TOPMed rs1368211262
- gnomAD rs1368211262
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available