L45I (p.Leu45Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
L45I (p.Leu45Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L45I (p.Leu45Ile) variant details
- p.Leu45Ile
- gnomAD 2-168901464-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.10
- CADD 12.70
- PolyPhen-2 0.03
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available