p.Phe29 Leu30insMetValIleLeuValA variant of DBH (Dopamine beta-hydroxylase)
p.Phe29 Leu30insMetValIleLeuValA in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe29 Leu30insMetValIleLeuValA variant details
- gnomAD 9-133636454-T-TCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 15.90
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available