D12D (p.Asp12Asp) variant of SCN2A (Nav1.2)
D12D (p.Asp12Asp) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs1334730213
- gnomAD 2-165295859-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 12.40
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Literature evidence available