G23S (p.Gly23Ser) variant of KCNQ3 (O43525)
G23S (p.Gly23Ser) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs2130875367
- ClinGen CA372292962
- ClinVar RCV001509349
- ClinVar RCV005057464
- Uncertain significance
- not provided; Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.38
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided; Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available