V22M (p.Val22Met) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V22M (p.Val22Met) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- ExAC rs752771858
- TOPMed rs752771858
- gnomAD rs752771858
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- MetaLR 0.02
- MetaSVM -1.00
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available