G48S (p.Gly48Ser) variant of KCNQ3 (O43525)
G48S (p.Gly48Ser) 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 0.39 / 1. The record also includes population frequency data and structural context.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- rs1409166665
- ClinGen CA372292815
- ClinVar RCV001947641
- TOPMed rs1409166665
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available