L53L (p.Leu53Leu) variant of DBH (Dopamine beta-hydroxylase)
L53L (p.Leu53Leu) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- gnomAD 9-133636528-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 2.26
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available