V25L (p.Val25Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V25L (p.Val25Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- gnomAD 12-113058265-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- MetaLR 0.31
- MetaSVM -0.30
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available