L224S (p.Leu224Ser) variant of SCN1A (Nav1.1)
L224S (p.Leu224Ser) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Generalized epilepsy with febrile seizures plus, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L224S (p.Leu224Ser) variant details
- p.Leu224Ser
- rs796053091
- ClinGen CA317756
- ClinVar RCV000189073
- ClinVar RCV003985290
- Pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 22.20
- ClinVar: Pathogenic (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)