G18R (p.Gly18Arg) variant of KCNQ3 (O43525)
G18R (p.Gly18Arg) 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 0.49 / 1. The record also includes population frequency data and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs755333945
- ClinGen CA4881032
- ClinVar RCV003904493
- 1000Genomes rs755333945
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.04
- 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