Q26* (p.Gln26Ter) variant of RP2 (Protein XRP2)
Q26* (p.Gln26Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- rs104894925
- ClinGen CA255299
- ClinVar RCV000011291
- ClinVar RCV000657655
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Positional cloning of the gene for X-linked retinitis pigmentosa 2. (PMID 9697692)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)