R38G (p.Arg38Gly) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R38G (p.Arg38Gly) 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.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- NCI-TCGA Cosmic COSV9998
- 1000Genomes rs1489654894
- gnomAD rs1489654894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- MetaLR 0.28
- MetaSVM -0.50
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available