R57H (p.Arg57His) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R57H (p.Arg57His) 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 0.64 / 1. The record also includes population frequency data and structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs1337481570
- NCI-TCGA Cosmic COSV5749
- TOPMed rs1337481570
- gnomAD rs1337481570
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.23
- MetaSVM -0.68
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available