G20C (p.Gly20Cys) variant of KCNQ3 (O43525)
G20C (p.Gly20Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs2130875385
- ClinGen CA372292980
- ClinVar RCV001906594
- Ensembl rs2130875385
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available