E29G (p.Glu29Gly) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E29G (p.Glu29Gly) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- rs1457536266
- gnomAD 12-113058276-GGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available