Q18* (p.Gln18Ter) variant of SCN9A (Nav1.7)
Q18* (p.Gln18Ter) in SCN9A (Nav1.7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- gnomAD rs1391453280
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available