E33D (p.Glu33Asp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E33D (p.Glu33Asp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD 12-113058291-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.60
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available