E73* (p.Glu73Ter) variant of SCN10A (Q9Y5Y9)
E73* (p.Glu73Ter) in SCN10A (Q9Y5Y9) 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 0.74 / 1. The record also includes population frequency data and structural context.
E73* (p.Glu73Ter) variant details
- p.Glu73Ter
- rs1333951004
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71860
- TOPMed rs1333951004
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available