E39Q (p.Glu39Gln) variant of KCNQ3 (O43525)
E39Q (p.Glu39Gln) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- rs1448580874
- ClinGen CA372292867
- ClinVar RCV000799577
- TOPMed rs1448580874
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available