V34M (p.Val34Met) variant of DBH (Dopamine beta-hydroxylase)
V34M (p.Val34Met) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- gnomAD 9-133636471-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.50
- CADD 25.10
- PolyPhen-2 0.79
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available