A3P (p.Ala3Pro) variant of DBH (Dopamine beta-hydroxylase)
A3P (p.Ala3Pro) in DBH (Dopamine beta-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- gnomAD 9-133636377-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available