G59* (p.Gly59Ter) variant of RP2 (Protein XRP2)
G59* (p.Gly59Ter) 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.
G59* (p.Gly59Ter) variant details
- p.Gly59Ter
- rs2147081178
- ClinGen CA413038941
- ClinVar RCV001863498
- Ensembl rs2147081178
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available