P35A (p.Pro35Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
P35A (p.Pro35Ala) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- gnomAD 2-168901434-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.46
- CADD 22.20
- PolyPhen-2 0.60
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available