E119G (p.Glu119Gly) variant of KCNQ2 (O43526)
E119G (p.Glu119Gly) in KCNQ2 (O43526) is a missense change. The available record places it in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
E119G (p.Glu119Gly) variant details
- p.Glu119Gly
- rs118192193
- ClinGen CA342506
- ClinVar RCV000678077
- Ensembl rs118192193
- not provided
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.39
- MetaLR 0.48
- MetaSVM 0.22
- PolyPhen-2 0.52
- SIFT 0.00
- EVE 0.23
- ClinVar: not provided (Seizures, benign familial neonatal, 1)
- UniProt: Not provided
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)