R17R (p.Arg17Arg) variant of PKD2 (Polycystin-2)
R17R (p.Arg17Arg) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- gnomAD 4-88007782-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 10.80
- Population evidence available
- Structural context available
- Literature evidence available