Q8H (p.Gln8His) variant of PKD2 (Polycystin-2)
Q8H (p.Gln8His) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q8H (p.Gln8His) variant details
- p.Gln8His
- gnomAD 4-88007757-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available