P19H (p.Pro19His) variant of PKD2 (Polycystin-2)
P19H (p.Pro19His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 4-88007789-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.14
- CADD 20.70
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available