C51R (p.Cys51Arg) variant of PKD1 (Polycystin-1)
C51R (p.Cys51Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- rs2151858256
- ClinGen CA394282414
- ClinVar RCV003127115
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available