H50H (p.His50His) variant of DBH (Dopamine beta-hydroxylase)
H50H (p.His50His) in DBH (Dopamine beta-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H50H (p.His50His) variant details
- p.His50His
- rs1832054549
- gnomAD 9-133636521-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 1.22
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available