E29D (p.Glu29Asp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E29D (p.Glu29Asp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- gnomAD 12-113058279-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.31
- MetaSVM -0.25
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available