S30Y (p.Ser30Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
S30Y (p.Ser30Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- gnomAD 2-168901420-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available