I58L (p.Ile58Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
I58L (p.Ile58Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I58L (p.Ile58Leu) variant details
- p.Ile58Leu
- Ensembl rs1690592225
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.75
- SIFT 0.33
- Population evidence available
- Structural context available