N53S (p.Asn53Ser) variant of SCN2A (Q99250)
N53S (p.Asn53Ser) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs2467838632
- ClinGen CA349010236
- ClinVar RCV003060436
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.78
- MetaSVM 0.52
- CADD 18.80
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)