D25Y (p.Asp25Tyr) variant of PKD2 (Polycystin-2)
D25Y (p.Asp25Tyr) 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.
D25Y (p.Asp25Tyr) variant details
- p.Asp25Tyr
- gnomAD 4-88007806-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available