A294E (p.Ala294Glu) variant of KCNQ2 (O43526)
A294E (p.Ala294Glu) 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; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A294E (p.Ala294Glu) variant details
- p.Ala294Glu
- rs118192211
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60431
- Pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)