L4S (p.Leu4Ser) variant of DBH (Dopamine beta-hydroxylase)
L4S (p.Leu4Ser) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- gnomAD 9-133636378-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available