R3Q (p.Arg3Gln) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R3Q (p.Arg3Gln) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- Ensembl rs2044642520
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.05
- MetaSVM -1.08
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available