V51M (p.Val51Met) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V51M (p.Val51Met) 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 0.62 / 1. The record also includes population frequency data and structural context.
V51M (p.Val51Met) variant details
- p.Val51Met
- rs868570524
- NCI-TCGA Cosmic COSV5750
- gnomAD rs868570524
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- MetaLR 0.20
- MetaSVM -0.75
- CADD 25.60
- PolyPhen-2 0.83
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available