R24Q (p.Arg24Gln) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R24Q (p.Arg24Gln) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- TOPMed rs2044643399
- gnomAD rs2044643399
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.16
- MetaSVM -0.97
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available