P35S (p.Pro35Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
P35S (p.Pro35Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- gnomAD 2-168901434-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available