D45G (p.Asp45Gly) variant of SCN1A (P35498)
D45G (p.Asp45Gly) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- rs1559284606
- ClinGen CA349243095
- ClinVar RCV000729035
- ClinVar RCV006608040
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- AlphaMissense 0.12
- MetaLR 0.88
- MetaSVM 0.90
- PolyPhen-2 0.26
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available