G27C (p.Gly27Cys) variant of PKD2 (Polycystin-2)
G27C (p.Gly27Cys) 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.
G27C (p.Gly27Cys) variant details
- p.Gly27Cys
- gnomAD 4-88007812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available