G27S (p.Gly27Ser) variant of PKD2 (Polycystin-2)
G27S (p.Gly27Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- gnomAD 4-88007812-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- CADD 18.80
- PolyPhen-2 0.31
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available