Q10E (p.Gln10Glu) variant of PKD2 (Polycystin-2)
Q10E (p.Gln10Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- gnomAD 4-88007761-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available