W269C (p.Trp269Cys) variant of KCNQ2 (O43526)
W269C (p.Trp269Cys) 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; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
W269C (p.Trp269Cys) variant details
- p.Trp269Cys
- rs118192208
- ClinGen CA409653355
- ClinVar RCV002274438
- ClinVar RCV006558729
- Pathogenic
- Seizures, benign familial neonatal, 1; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1; Early-infantile DEE)
- 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)