G58E (p.Gly58Glu) variant of KCNQ3 (O43525)
G58E (p.Gly58Glu) 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 0.72 / 1. The record also includes structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- rs1822520136
- ClinGen CA372292748
- cosmic curated COSV66483
- ClinVar RCV001231303
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- AlphaMissense 0.17
- MetaLR 0.89
- MetaSVM 0.87
- PolyPhen-2 0.89
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available