F39V (p.Phe39Val) variant of G6PC2 (Glucose-6-phosphatase 2)
F39V (p.Phe39Val) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F39V (p.Phe39Val) variant details
- p.Phe39Val
- gnomAD rs1272455884
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available