Q60* (p.Gln60Ter) variant of RP2 (Protein XRP2)
Q60* (p.Gln60Ter) in RP2 (Protein XRP2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- rs1924897230
- ClinGen CA413038946
- ClinVar RCV001075521
- Ensembl rs1924897230
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available