G256W (p.Gly256Trp) variant of KCNQ2 (O43526)
G256W (p.Gly256Trp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G256W (p.Gly256Trp) variant details
- p.Gly256Trp
- rs1057518500
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60433
- ClinGen CA409653491
- Pathogenic/Likely pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.81
- AlphaMissense 0.63
- MetaLR 0.88
- MetaSVM 0.92
- CADD 25.90
- PolyPhen-2 0.12
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)