P35R (p.Pro35Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
P35R (p.Pro35Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 2-168901435-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.54
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available