Q10H (p.Gln10His) variant of PKD2 (Polycystin-2)
Q10H (p.Gln10His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- gnomAD 4-88007763-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available