S32* (p.Ser32Ter) variant of SCN9A (Nav1.7)
S32* (p.Ser32Ter) in SCN9A (Nav1.7) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available