Q10* (p.Gln10Ter) variant of PRPH2 (Peripherin-2)
Q10* (p.Gln10Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs1761921113
- ClinGen CA364138925
- ClinVar RCV001073237
- Ensembl rs1761921113
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available