V2L (p.Val2Leu) variant of PKD2 (Polycystin-2)
V2L (p.Val2Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- gnomAD 4-88007737-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.13
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available