E17R (p.Glu17Arg) variant of DBH (Dopamine beta-hydroxylase)
E17R (p.Glu17Arg) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E17R (p.Glu17Arg) variant details
- p.Glu17Arg
- gnomAD 9-133636417-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available