A3A (p.Ala3Ala) variant of DBH (Dopamine beta-hydroxylase)
A3A (p.Ala3Ala) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1229611113
- gnomAD 9-133636380-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 3.23
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available