A19A (p.Ala19Ala) variant of DBH (Dopamine beta-hydroxylase)
A19A (p.Ala19Ala) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- gnomAD 9-133636428-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 1.67
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available