S40* (p.Ser40Ter) variant of DBH (Dopamine beta-hydroxylase)
S40* (p.Ser40Ter) 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 0.48 / 1. The record also includes population frequency data and structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- NCI-TCGA Cosmic COSV5503
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available