D25G (p.Asp25Gly) variant of PKD2 (Polycystin-2)
D25G (p.Asp25Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- TOPMed rs1351341206
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 9.42
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available