L1340P (p.Leu1340Pro) variant of SCN1A (Nav1.1)
L1340P (p.Leu1340Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe myoclonic epilepsy in infancy; Early-infantile DEE; Generalized epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L1340P (p.Leu1340Pro) variant details
- p.Leu1340Pro
- rs1691091949
- ClinGen CA349050825
- ClinVar RCV001198998
- Ensembl rs1691091949
- Likely pathogenic
- Severe myoclonic epilepsy in infancy; Early-infantile DEE; Generalized epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)