D45E (p.Asp45Glu) variant of SCN1A (P35498)
D45E (p.Asp45Glu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- rs201985242
- ClinGen CA1943563
- ClinVar RCV006463745
- 1000Genomes rs201985242
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.0755
- CADD 0.00
- PolyPhen-2 0.65
- SIFT 0.95
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available