Q11K (p.Gln11Lys) variant of PKD2 (Polycystin-2)
Q11K (p.Gln11Lys) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q11K (p.Gln11Lys) variant details
- p.Gln11Lys
- gnomAD 4-88007764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available