Y27* (p.Tyr27Ter) variant of RP2 (Protein XRP2)
Y27* (p.Tyr27Ter) in RP2 (Protein XRP2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- rs2519902152
- ClinGen CA2580100999
- ClinVar RCV003022633
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available