D12E (p.Asp12Glu) variant of SCN8A (Q9UQD0)
D12E (p.Asp12Glu) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- rs1185519570
- ClinGen CA385227445
- ClinVar RCV001374158
- TOPMed rs1185519570
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.62
- MetaSVM -0.26
- PolyPhen-2 0.47
- SIFT 0.32
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available