S223F (p.Ser223Phe) variant of KCNQ2 (O43526)
S223F (p.Ser223Phe) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S223F (p.Ser223Phe) variant details
- p.Ser223Phe
- rs2145774638
- ClinGen CA409654681
- ClinVar RCV001786548
- ClinVar RCV002275233
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)