V60L (p.Val60Leu) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
V60L (p.Val60Leu) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- gnomAD 12-113058370-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- MetaLR 0.26
- MetaSVM -0.58
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available