I48I (p.Ile48Ile) variant of DTX1 (E3 ubiquitin-protein ligase DTX1)
I48I (p.Ile48Ile) in DTX1 (E3 ubiquitin-protein ligase DTX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs760786131
- gnomAD 12-113058336-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.75
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available