A36A (p.Ala36Ala) variant of DBH (Dopamine beta-hydroxylase)
A36A (p.Ala36Ala) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A36A (p.Ala36Ala) variant details
- p.Ala36Ala
- rs1399511922
- gnomAD 9-133636479-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0866
- CADD 1.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available