C60* (p.Cys60Ter) variant of SCN10A (Q9Y5Y9)
C60* (p.Cys60Ter) in SCN10A (Q9Y5Y9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C60* (p.Cys60Ter) variant details
- p.Cys60Ter
- ExAC rs762808748
- gnomAD rs762808748
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 35.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available