E254A (p.Glu254Ala) variant of KCNQ2 (O43526)
E254A (p.Glu254Ala) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E254A (p.Glu254Ala) variant details
- p.Glu254Ala
- rs794727739
- ClinGen CA409653513
- ClinVar RCV002250064
- Ensembl rs794727739
- Pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 0.00
- SIFT 0.02
- EVE 0.75
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)