Q58* (p.Gln58Ter) variant of SCN9A (Nav1.7)
Q58* (p.Gln58Ter) in SCN9A (Nav1.7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- ExAC rs759604608
- gnomAD rs759604608
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 35.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available