E86K (p.Glu86Lys) variant of KCNQ2 (O43526)
E86K (p.Glu86Lys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- rs2516743177
- ClinGen CA409635057
- ClinVar RCV003384297
- Likely pathogenic
- Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.89
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizure)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available