R17P (p.Arg17Pro) variant of PKD2 (Polycystin-2)
R17P (p.Arg17Pro) in PKD2 (Polycystin-2) is a missense 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.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- gnomAD 4-88007783-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.08
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available