C232S (p.Cys232Ser) variant of PKD1 (Polycystin-1)
C232S (p.Cys232Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic kidney disease, adult type. The record also includes published literature and structural context.
C232S (p.Cys232Ser) variant details
- p.Cys232Ser
- rs2544880304
- ClinGen CA394394545
- ClinVar RCV003486476
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)