D81E (p.Asp81Glu) variant of SCN1A (Nav1.1)
D81E (p.Asp81Glu) 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 0.85 / 1. The record also includes structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- rs796053016
- ClinGen CA349242681
- ClinVar RCV006466836
- Ensembl rs796053016
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.01
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available