Y40Y (p.Tyr40Tyr) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
Y40Y (p.Tyr40Tyr) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y40Y (p.Tyr40Tyr) variant details
- p.Tyr40Tyr
- rs780164893
- gnomAD 12-113058312-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 9.81
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available