G27D (p.Gly27Asp) variant of PKD2 (Polycystin-2)
G27D (p.Gly27Asp) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- gnomAD 4-88007813-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -0.97
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available