D25V (p.Asp25Val) variant of PKD2 (Polycystin-2)
D25V (p.Asp25Val) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D25V (p.Asp25Val) variant details
- p.Asp25Val
- gnomAD 4-88007807-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available