E49E (p.Glu49Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E49E (p.Glu49Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs2136420741
- gnomAD 12-113058339-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 9.00
- Population evidence available
- Structural context available
- Literature evidence available