P55del (p.Pro55del) variant of DBH (Dopamine beta-hydroxylase)
P55del (p.Pro55del) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P55del (p.Pro55del) variant details
- gnomAD 9-133636533-CCCG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 15.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available