C51S (p.Cys51Ser) variant of PKD1 (Polycystin-1)
C51S (p.Cys51Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
C51S (p.Cys51Ser) variant details
- p.Cys51Ser
- rs2151858256
- ClinGen CA394282416
- ClinVar RCV003991101
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)