L3869R (p.Leu3869Arg) variant of PKD1 (Polycystin-1)
L3869R (p.Leu3869Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic kidney disease, adult type. The record also includes published literature and structural context.
L3869R (p.Leu3869Arg) variant details
- p.Leu3869Arg
- rs1555445569
- ClinGen CA394331848
- ClinVar RCV001754397
- ClinVar RCV002477920
- Likely pathogenic
- not provided; Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (not provided; Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)