E39G (p.Glu39Gly) variant of KCNQ3 (O43525)
E39G (p.Glu39Gly) 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; KCNQ3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- rs1822522895
- ClinGen CA372292864
- ClinVar RCV001344130
- ClinVar RCV003405576
- Uncertain significance
- Benign neonatal seizures; KCNQ3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Benign neonatal seizures; KCNQ3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available