E56* (p.Glu56Ter) variant of DBH (Dopamine beta-hydroxylase)
E56* (p.Glu56Ter) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- gnomAD 9-133636537-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available