Q3E (p.Gln3Glu) variant of KCNQ2 (O43526)
Q3E (p.Gln3Glu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- rs868642147
- ClinGen CA409636337
- ClinVar RCV002227630
- ClinVar RCV006470265
- Uncertain significance
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)