L15H (p.Leu15His) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
L15H (p.Leu15His) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
L15H (p.Leu15His) variant details
- p.Leu15His
- gnomAD 12-113058234-TCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 29.90
- Population evidence available
- Literature evidence available