R57C (p.Arg57Cys) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
R57C (p.Arg57Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
R57C (p.Arg57Cys) variant details
- p.Arg57Cys
- NCI-TCGA Cosmic COSV9998
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.28
- MetaSVM -0.51
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available