K98E (p.Lys98Glu) variant of KCNQ3 (O43525)
K98E (p.Lys98Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K98E (p.Lys98Glu) variant details
- p.Lys98Glu
- rs1439616512
- ClinGen CA372292517
- ClinVar RCV003074125
- ClinVar RCV004763522
- Uncertain significance
- Benign neonatal seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.62
- CADD 24.70
- ClinVar: Uncertain significance (Benign neonatal seizures; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available