E49V (p.Glu49Val) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
E49V (p.Glu49Val) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E49V (p.Glu49Val) variant details
- p.Glu49Val
- gnomAD 12-113058338-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.46
- MetaSVM 0.04
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available