Q54* (p.Gln54Ter) variant of SCN10A (Nav1.8)
Q54* (p.Gln54Ter) in SCN10A (Nav1.8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- Ensembl rs1559469178
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available