Q31* (p.Gln31Ter) variant of RP2 (Protein XRP2)
Q31* (p.Gln31Ter) in RP2 (Protein XRP2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs2147074694
- ClinGen CA413038359
- ClinVar RCV001389355
- Ensembl rs2147074694
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available