D54E (p.Asp54Glu) variant of DBH (Dopamine beta-hydroxylase)
D54E (p.Asp54Glu) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- gnomAD 9-133636533-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- MetaLR 0.24
- MetaSVM -0.59
- CADD 22.70
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available