Q8E (p.Gln8Glu) variant of PKD2 (Polycystin-2)
Q8E (p.Gln8Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q8E (p.Gln8Glu) variant details
- p.Gln8Glu
- gnomAD 4-88007755-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.15
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available