S74P (p.Ser74Pro) variant of SCN1A (P35498)
S74P (p.Ser74Pro) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S74P (p.Ser74Pro) variant details
- p.Ser74Pro
- rs121917931
- ClinGen CA266089
- ClinVar RCV000059386
- ClinVar RCV006461355
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.36
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic (in GEFSP2)
- UniProt: Pathogenic (in GEFSP2)
- Structural context available
- Cited in: Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. (PMID 17561957)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)