C498R (p.Cys498Arg) variant of OCRL (Q01968)
C498R (p.Cys498Arg) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lowe syndrome. The record also includes published literature and structural context.
C498R (p.Cys498Arg) variant details
- p.Cys498Arg
- rs2521906144
- ClinGen CA414616343
- ClinVar RCV002875659
- Pathogenic
- Lowe syndrome
- Missense
- ClinVar: Pathogenic (Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)