D45G (p.Asp45Gly) variant of SCN2A (Nav1.2)
D45G (p.Asp45Gly) in SCN2A (Nav1.2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- ExAC rs748331725
- TOPMed rs748331725
- gnomAD rs748331725
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.61
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.92
- MetaSVM 1.03
- CADD 24.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available