E76G (p.Glu76Gly) variant of KCNQ3 (O43525)
E76G (p.Glu76Gly) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E76G (p.Glu76Gly) variant details
- p.Glu76Gly
- TOPMed rs1438607992
- gnomAD rs1438607992
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.36
- CADD 25.30
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available