E56D (p.Glu56Asp) variant of DBH (Dopamine beta-hydroxylase)
E56D (p.Glu56Asp) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD rs1303774367
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.02
- CADD 10.10
- PolyPhen-2 0.03
- SIFT 0.38
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available