E76Q (p.Glu76Gln) variant of KCNQ3 (O43525)
E76Q (p.Glu76Gln) in KCNQ3 (O43525) 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 0.48 / 1. The record also includes population frequency data and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- ExAC rs747768821
- TOPMed rs747768821
- gnomAD rs747768821
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available