W7* (p.Trp7Ter) variant of DBH (Dopamine beta-hydroxylase)
W7* (p.Trp7Ter) in DBH (Dopamine beta-hydroxylase) 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 0.56 / 1. The record also includes population frequency data and structural context.
W7* (p.Trp7Ter) variant details
- p.Trp7Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available