R4* (p.Arg4Ter) variant of NR2E3 (Q9Y5X4)
R4* (p.Arg4Ter) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R4* (p.Arg4Ter) variant details
- p.Arg4Ter
- gnomAD 15-71810753-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available