S40S (p.Ser40Ser) variant of DBH (Dopamine beta-hydroxylase)
S40S (p.Ser40Ser) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- rs200378894
- gnomAD 9-133636491-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0798
- CADD 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available