S9S (p.Ser9Ser) variant of DBH (Dopamine beta-hydroxylase)
S9S (p.Ser9Ser) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- rs1247677192
- gnomAD 9-133636398-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 0.66
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available