E56E (p.Glu56Glu) variant of DBH (Dopamine beta-hydroxylase)
E56E (p.Glu56Glu) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E56E (p.Glu56Glu) variant details
- p.Glu56Glu
- rs1303774367
- gnomAD 9-133636539-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 3.79
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available