G1421E (p.Gly1421Glu) variant of SCN1A (Nav1.1)
G1421E (p.Gly1421Glu) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
G1421E (p.Gly1421Glu) variant details
- p.Gly1421Glu
- rs1064795756
- ClinGen CA16617290
- ClinVar RCV000481871
- Ensembl rs1064795756
- Conflicting interpretations
- Early-infantile DEE; not provided; Severe myoclonic epilepsy in infancy
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Conflicting classifications of pathogenicity (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available