F127C (p.Phe127Cys) variant of PKD1 (Polycystin-1)
F127C (p.Phe127Cys) 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.
F127C (p.Phe127Cys) variant details
- p.Phe127Cys
- rs2092679766
- ClinGen CA394395686
- ClinVar RCV001281205
- Ensembl rs2092679766
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)