P12H (p.Pro12His) variant of PKD2 (Polycystin-2)
P12H (p.Pro12His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- gnomAD 4-88007768-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.15
- CADD 24.00
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available