Q11E (p.Gln11Glu) variant of PKD2 (Polycystin-2)
Q11E (p.Gln11Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q11E (p.Gln11Glu) variant details
- p.Gln11Glu
- gnomAD 4-88007764-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.11
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available