W75* (p.Trp75Ter) variant of REEP1 (Q9H902)
W75* (p.Trp75Ter) in REEP1 (Q9H902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W75* (p.Trp75Ter) variant details
- p.Trp75Ter
- rs2104244665
- ClinGen CA347717453
- ClinVar RCV001386988
- Ensembl rs2104244665
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)