L117P (p.Leu117Pro) variant of SCN1A (Nav1.1)
L117P (p.Leu117Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
L117P (p.Leu117Pro) variant details
- p.Leu117Pro
- rs1064796384
- ClinGen CA16617318
- ClinVar RCV000481610
- ClinVar RCV001262228
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.62
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)