F207S (p.Phe207Ser) variant of SCN2A (Nav1.2)
F207S (p.Phe207Ser) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial infantile, 3; Episodic ataxia, type 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
F207S (p.Phe207Ser) variant details
- p.Phe207Ser
- rs1064796691
- ClinGen CA349017330
- ClinVar RCV001253523
- ClinVar RCV003989658
- Likely pathogenic
- Seizures, benign familial infantile, 3; Episodic ataxia, type 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Episodic ataxia, type 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)