F1375V (p.Phe1375Val) variant of SCN2A (Nav1.2)
F1375V (p.Phe1375Val) 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; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
F1375V (p.Phe1375Val) variant details
- p.Phe1375Val
- rs1308555812
- ClinGen CA349031004
- ClinVar RCV001041027
- ClinVar RCV001560076
- Likely pathogenic
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.77
- MetaSVM 0.46
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial infantile, 3; Developmental and epilep)
- 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)