I28I (p.Ile28Ile) variant of DBH (Dopamine beta-hydroxylase)
I28I (p.Ile28Ile) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I28I (p.Ile28Ile) variant details
- p.Ile28Ile
- gnomAD 9-133636455-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 8.95
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available