E51D (p.Glu51Asp) variant of KCNQ3 (O43525)
E51D (p.Glu51Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- rs1405186695
- ClinGen CA372292790
- ClinVar RCV001034787
- gnomAD rs1405186695
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.32
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available