V7A (p.Val7Ala) variant of PKD2 (Polycystin-2)
V7A (p.Val7Ala) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- gnomAD 4-88007753-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available