F39Y (p.Phe39Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
F39Y (p.Phe39Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F39Y (p.Phe39Tyr) variant details
- p.Phe39Tyr
- gnomAD 2-168901447-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available