W33* (p.Trp33Ter) variant of SOD1 (Superoxide dismutase [Cu-Zn])
W33* (p.Trp33Ter) in SOD1 (Superoxide dismutase [Cu-Zn]) 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 0.29 / 1. The record also includes population frequency data and structural context.
W33* (p.Trp33Ter) variant details
- p.Trp33Ter
- TOPMed rs1319528534
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 29.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available