S5G (p.Ser5Gly) variant of PKD2 (Polycystin-2)
S5G (p.Ser5Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- gnomAD 4-88007746-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.18
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available