R38Q (p.Arg38Gln) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R38Q (p.Arg38Gln) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- ESP rs147326535
- TOPMed rs147326535
- gnomAD rs147326535
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- MetaLR 0.31
- MetaSVM -0.36
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available