D12G (p.Asp12Gly) variant of SCN2A (Nav1.2)
D12G (p.Asp12Gly) in SCN2A (Nav1.2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD 2-165295858-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.60
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available