E18* (p.Glu18Ter) variant of RP2 (Protein XRP2)
E18* (p.Glu18Ter) in RP2 (Protein XRP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- gnomAD X-46837152-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available