R22P (p.Arg22Pro) variant of PKD2 (Polycystin-2)
R22P (p.Arg22Pro) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R22P (p.Arg22Pro) variant details
- p.Arg22Pro
- gnomAD 4-88007798-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available