E44D (p.Glu44Asp) variant of DBH (Dopamine beta-hydroxylase)
E44D (p.Glu44Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD 9-133636503-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.00
- CADD 6.33
- PolyPhen-2 0.04
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available