G1371D (p.Gly1371Asp) variant of SCN1A (Nav1.1)
G1371D (p.Gly1371Asp) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1371D (p.Gly1371Asp) variant details
- p.Gly1371Asp
- rs865867764
- ClinGen CA59769781
- ClinVar RCV002250311
- ClinVar RCV006558675
- Pathogenic/Likely pathogenic
- Early-infantile DEE; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Early-infantile DEE; Generalized epilepsy with febrile seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)