S570N (p.Ser570Asn) variant of SCN1A (Nav1.1)
S570N (p.Ser570Asn) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S570N (p.Ser570Asn) variant details
- p.Ser570Asn
- rs1057518703
- ClinGen CA16043652
- ClinVar RCV000415450
- ClinVar RCV001584109
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.35
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)