G18W (p.Gly18Trp) variant of KCNQ3 (O43525)
G18W (p.Gly18Trp) 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 0.52 / 1. The record also includes population frequency data and structural context.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- rs755333945
- ClinGen CA372292991
- ClinVar RCV002038787
- 1000Genomes rs755333945
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.39
- CADD 25.90
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available