V7G (p.Val7Gly) variant of PKD2 (Polycystin-2)
V7G (p.Val7Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- gnomAD 4-88007753-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available