V527D (p.Val527Asp) variant of OCRL (Q01968)
V527D (p.Val527Asp) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dent disease. The record also includes published literature and structural context.
V527D (p.Val527Asp) variant details
- p.Val527Asp
- rs2521906486
- ClinGen CA414616544
- ClinVar RCV002308512
- Likely pathogenic
- Dent disease
- Missense
- ClinVar: Likely pathogenic (Dent disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)