D81G (p.Asp81Gly) variant of SCN1A (P35498)
D81G (p.Asp81Gly) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D81G (p.Asp81Gly) variant details
- p.Asp81Gly
- rs1684663181
- ClinGen CA349242686
- ClinVar RCV001030755
- ClinVar RCV006465079
- Conflicting interpretations
- Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Conflicting classifications of pathogenicity (Severe myoclonic epilepsy in infancy; Generalized epilepsy with)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)