D12E (p.Asp12Glu) variant of SCN2A (Q99250)
D12E (p.Asp12Glu) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- rs1334730213
- ClinGen CA349009727
- ClinVar RCV001034090
- TOPMed rs1334730213
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.76
- MetaSVM 0.27
- CADD 21.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)