Q10L (p.Gln10Leu) variant of PKD2 (Polycystin-2)
Q10L (p.Gln10Leu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- gnomAD 4-88007762-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available