R22R (p.Arg22Arg) variant of PKD2 (Polycystin-2)
R22R (p.Arg22Arg) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- rs1368294684
- gnomAD 4-88007799-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available