L47L (p.Leu47Leu) variant of DBH (Dopamine beta-hydroxylase)
L47L (p.Leu47Leu) 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.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- gnomAD 9-133636512-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 3.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available