V2E (p.Val2Glu) variant of PKD2 (Polycystin-2)
V2E (p.Val2Glu) 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.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- gnomAD 4-88007738-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.13
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available