G8E (p.Gly8Glu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G8E (p.Gly8Glu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 12-113058215-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- MetaLR 0.01
- MetaSVM -0.97
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available