G8W (p.Gly8Trp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
G8W (p.Gly8Trp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- gnomAD 12-113058214-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.02
- MetaSVM -1.00
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available