L4I (p.Leu4Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
L4I (p.Leu4Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 2-168901341-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available