P19R (p.Pro19Arg) variant of PKD2 (Polycystin-2)
P19R (p.Pro19Arg) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- gnomAD 4-88007789-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.09
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available