L93P (p.Leu93Pro) variant of PKD1 (Polycystin-1)
L93P (p.Leu93Pro) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The record also includes published literature and structural context.
L93P (p.Leu93Pro) variant details
- p.Leu93Pro
- rs2151826530
- ClinGen CA394396143
- ClinVar RCV001844984
- Ensembl rs2151826530
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)