S45S (p.Ser45Ser) variant of DBH (Dopamine beta-hydroxylase)
S45S (p.Ser45Ser) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S45S (p.Ser45Ser) variant details
- p.Ser45Ser
- rs770943084
- gnomAD 9-133636506-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 4.39
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available