A20R (p.Ala20Arg) variant of REEP1 (Q9H902)
A20R (p.Ala20Arg) in REEP1 (Q9H902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SPG31. The record also includes published literature and structural context.
A20R (p.Ala20Arg) variant details
- p.Ala20Arg
- rs2468983226
- ClinGen CA2580068279
- ClinVar RCV002806831
- Pathogenic
- in SPG31
- Missense
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)