E93* (p.Glu93Ter) variant of RINL (Q6ZS11)
E93* (p.Glu93Ter) in RINL (Q6ZS11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
E93* (p.Glu93Ter) variant details
- p.Glu93Ter
- 1000Genomes rs61740709
- TOPMed rs61740709
- gnomAD rs61740709
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 34.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available