E8* (p.Glu8Ter) variant of UNC80 (Protein unc-80 homolog)
E8* (p.Glu8Ter) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- gnomAD 2-209772094-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 36.00
- Population evidence available
- Literature evidence available