E2* (p.Glu2Ter) variant of NR2E3 (Q9Y5X4)
E2* (p.Glu2Ter) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 15-71810747-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 23.20
- Population evidence available
- Literature evidence available