Q8K (p.Gln8Lys) variant of PKD2 (Polycystin-2)
Q8K (p.Gln8Lys) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD 4-88007755-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available