S15* (p.Ser15Ter) variant of RP2 (Protein XRP2)
S15* (p.Ser15Ter) in RP2 (Protein XRP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S15* (p.Ser15Ter) variant details
- p.Ser15Ter
- gnomAD X-46837144-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available