E51K (p.Glu51Lys) variant of KCNQ3 (O43525)
E51K (p.Glu51Lys) 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 0.56 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- rs1398300403
- ClinGen CA372292796
- ClinVar RCV003077148
- TOPMed rs1398300403
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.11
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available