R3W (p.Arg3Trp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R3W (p.Arg3Trp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- ExAC rs777879482
- TOPMed rs777879482
- gnomAD rs777879482
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.06
- MetaSVM -1.12
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available