R22C (p.Arg22Cys) variant of PKD2 (Polycystin-2)
R22C (p.Arg22Cys) in PKD2 (Polycystin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R22C (p.Arg22Cys) variant details
- p.Arg22Cys
- TOPMed rs1338261349
- gnomAD rs1338261349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available