H47D (p.His47Asp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
H47D (p.His47Asp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H47D (p.His47Asp) variant details
- p.His47Asp
- gnomAD 12-113058331-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- MetaLR 0.24
- MetaSVM -0.61
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available