F39L (p.Phe39Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
F39L (p.Phe39Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F39L (p.Phe39Leu) variant details
- p.Phe39Leu
- gnomAD 2-168901446-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.86
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available