p.Glu56 Ser58del variant of DBH (Dopamine beta-hydroxylase)
p.Glu56 Ser58del in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu56 Ser58del variant details
- gnomAD 9-133636534-CCGGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 15.80
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available