G271S (p.Gly271Ser) variant of SCN1A (Nav1.1)
G271S (p.Gly271Ser) in SCN1A (Nav1.1) 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; Migraine, familial hemiplegic, 3; Generali. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
G271S (p.Gly271Ser) variant details
- p.Gly271Ser
- rs2105889878
- ClinGen CA349073228
- ClinVar RCV002479417
- ClinVar RCV005232717
- Uncertain significance
- Severe myoclonic epilepsy in infancy; Migraine, familial hemiplegic, 3; Generali
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)