A42T (p.Ala42Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
A42T (p.Ala42Thr) 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 and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- ExAC rs776328674
- gnomAD rs776328674
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.13
- MetaSVM -0.92
- CADD 25.60
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available