R8* (p.Arg8Ter) variant of RP2 (Protein XRP2)
R8* (p.Arg8Ter) 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 0.42 / 1. The record also includes population frequency data and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- rs2147074627
- ClinGen CA413038181
- ClinVar RCV001956114
- Ensembl rs2147074627
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available