A23V (p.Ala23Val) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A23V (p.Ala23Val) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 12-113058260-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.15
- MetaSVM -0.94
- CADD 25.20
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available