Y88* (p.Tyr88Ter) variant of REEP1 (Q9H902)
Y88* (p.Tyr88Ter) in REEP1 (Q9H902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Y88* (p.Tyr88Ter) variant details
- p.Tyr88Ter
- rs879254031
- ClinGen CA10584227
- ClinVar RCV000236987
- Ensembl rs879254031
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available