Q11H (p.Gln11His) variant of PKD2 (Polycystin-2)
Q11H (p.Gln11His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- Ensembl rs1726222567
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available