L897F (p.Leu897Phe) variant of SCN1A (Nav1.1)
L897F (p.Leu897Phe) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in inf. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L897F (p.Leu897Phe) variant details
- p.Leu897Phe
- rs1574183148
- ClinGen CA349061589
- ClinVar RCV001311217
- ClinVar RCV006605331
- Likely pathogenic
- not provided; Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in inf
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (not provided; Migraine, familial hemiplegic, 3; Severe myoclonic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)