Y40T (p.Tyr40Thr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
Y40T (p.Tyr40Thr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y40T (p.Tyr40Thr) variant details
- p.Tyr40Thr
- gnomAD 12-113058309-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 28.10
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available