E17G (p.Glu17Gly) variant of DBH (Dopamine beta-hydroxylase)
E17G (p.Glu17Gly) 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.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- rs769637610
- gnomAD 9-133636417-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available