L45F (p.Leu45Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
L45F (p.Leu45Phe) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- gnomAD 2-168901464-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available