E27* (p.Glu27Ter) variant of NR2E3 (Q9Y5X4)
E27* (p.Glu27Ter) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 15-71810822-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available