C210R (p.Cys210Arg) variant of PKD1 (Polycystin-1)
C210R (p.Cys210Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C210R (p.Cys210Arg) variant details
- p.Cys210Arg
- rs2544880665
- ClinVar RCV004595039
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.70
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic (in PKD1)
- UniProt: Likely pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)