W29* (p.Trp29Ter) variant of RP2 (Protein XRP2)
W29* (p.Trp29Ter) 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 0.77 / 1. The record also includes population frequency data and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs2147074689
- ClinGen CA413038343
- ClinVar RCV001946850
- ClinVar RCV003888942
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.77
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available