Y83D (p.Tyr83Asp) variant of SCN1A (Nav1.1)
Y83D (p.Tyr83Asp) in SCN1A (Nav1.1) 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 0.77 / 1. The record also includes structural context.
Y83D (p.Tyr83Asp) variant details
- p.Tyr83Asp
- rs1362796016
- ClinGen CA349242667
- ClinVar RCV006468611
- gnomAD rs1362796016
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.59
- MetaLR 0.96
- MetaSVM 1.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.34
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available