G49G (p.Gly49Gly) variant of SCN2A (Nav1.2)
G49G (p.Gly49Gly) in SCN2A (Nav1.2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G49G (p.Gly49Gly) variant details
- p.Gly49Gly
- rs1182973696
- gnomAD 2-165295970-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 9.75
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available