L30L (p.Leu30Leu) variant of DBH (Dopamine beta-hydroxylase)
L30L (p.Leu30Leu) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs368414868
- gnomAD 9-133636459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 9.51
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available