P48P (p.Pro48Pro) variant of DBH (Dopamine beta-hydroxylase)
P48P (p.Pro48Pro) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- gnomAD 9-133636515-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 2.48
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available