V27M (p.Val27Met) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V27M (p.Val27Met) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V27M (p.Val27Met) variant details
- p.Val27Met
- gnomAD 12-113058271-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- MetaLR 0.31
- MetaSVM -0.32
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available