C3* (p.Cys3Ter) variant of RP2 (Protein XRP2)
C3* (p.Cys3Ter) in RP2 (Protein XRP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C3* (p.Cys3Ter) variant details
- p.Cys3Ter
- gnomAD X-46837109-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.836
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available