S54C (p.Ser54Cys) variant of SCN2A (Q99250)
S54C (p.Ser54Cys) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs557687080
- ClinGen CA349010249
- ClinVar RCV001326364
- gnomAD rs557687080
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.93
- MetaSVM 1.05
- CADD 23.80
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)