E54* (p.Glu54Ter) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E54* (p.Glu54Ter) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- gnomAD 12-113058352-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available