N94Y (p.Asn94Tyr) variant of SCN1A (P35498)
N94Y (p.Asn94Tyr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
N94Y (p.Asn94Tyr) variant details
- p.Asn94Tyr
- rs1699367901
- ClinGen CA349077255
- ClinVar RCV006465223
- Ensembl rs1699367901
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available