W38* (p.Trp38Ter) variant of REEP1 (Q9H902)
W38* (p.Trp38Ter) 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.
W38* (p.Trp38Ter) variant details
- p.Trp38Ter
- rs1060503494
- ClinGen CA16611230
- ClinVar RCV000457155
- ClinVar RCV001848818
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)