S13I (p.Ser13Ile) variant of SCN1A (P35498)
S13I (p.Ser13Ile) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- rs1684704155
- ClinGen CA349243442
- ClinVar RCV002243593
- Ensembl rs1684704155
- Uncertain significance
- Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Severe myoclonic epilepsy in infancy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)