E17D (p.Glu17Asp) variant of DBH (Dopamine beta-hydroxylase)
E17D (p.Glu17Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 9-133636422-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -0.98
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available