F28V (p.Phe28Val) variant of G6PC2 (Glucose-6-phosphatase 2)
F28V (p.Phe28Val) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
F28V (p.Phe28Val) variant details
- p.Phe28Val
- ExAC rs34725343
- TOPMed rs34725343
- gnomAD rs34725343
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.62
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available