R28C (p.Arg28Cys) variant of PKD1 (Polycystin-1)
R28C (p.Arg28Cys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R28C (p.Arg28Cys) variant details
- p.Arg28Cys
- TOPMed rs963532477
- gnomAD rs963532477
- Uncertain significance
- Polycystic kidney disease, adult type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.03
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type; not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available