D79E (p.Asp79Glu) variant of SCN1A (P35498)
D79E (p.Asp79Glu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D79E (p.Asp79Glu) variant details
- p.Asp79Glu
- rs1276982403
- ClinGen CA349242702
- ClinVar RCV006563858
- TOPMed rs1276982403
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic (in DRVT)
- UniProt: Likely pathogenic (in DRVT)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available