R38W (p.Arg38Trp) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R38W (p.Arg38Trp) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs1489654894
- NCI-TCGA Cosmic COSV9998
- 1000Genomes rs1489654894
- gnomAD rs1489654894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- MetaLR 0.22
- MetaSVM -0.68
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available