P11T (p.Pro11Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
P11T (p.Pro11Thr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- 1000Genomes rs545955103
- ExAC rs545955103
- gnomAD rs545955103
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.02
- MetaSVM -1.06
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available