P18H (p.Pro18His) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P18H (p.Pro18His) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P18H (p.Pro18His) variant details
- p.Pro18His
- gnomAD 12-113058242-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available