F4* (p.Phe4Ter) variant of RP2 (Protein XRP2)
F4* (p.Phe4Ter) 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.
F4* (p.Phe4Ter) variant details
- p.Phe4Ter
- rs2147074613
- ClinGen CA2573158910
- ClinVar RCV001946613
- Ensembl rs2147074613
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available