D55E (p.Asp55Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
D55E (p.Asp55Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- ESP rs374367644
- ExAC rs374367644
- TOPMed rs374367644
- gnomAD rs374367644
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- MetaLR 0.17
- MetaSVM -0.79
- CADD 8.65
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available