E17E (p.Glu17Glu) variant of DBH (Dopamine beta-hydroxylase)
E17E (p.Glu17Glu) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- rs1364028360
- gnomAD 9-133636422-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 4.63
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available