P9R (p.Pro9Arg) variant of PKD2 (Polycystin-2)
P9R (p.Pro9Arg) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- gnomAD 4-88007759-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.20
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available