E76K (p.Glu76Lys) variant of KCNQ3 (O43525)
E76K (p.Glu76Lys) 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.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- rs747768821
- ClinGen CA4880993
- ClinVar RCV003041364
- ExAC rs747768821
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.52
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available